Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.133454517G>A | CA2786169830 | ADAMTS13 | c.3147G>A (p.Glu1049=) c.3054G>A (p.Glu1018=) c.*616G>A (n.*616G>A) n.1963G>A n.1982G>A c.2757G>A (p.Glu919=) c.2163G>A (p.Glu721=) c.2157G>A (p.Glu719=) c.1812G>A (p.Glu604=) c.1413G>A (p.Glu471=) c.3135G>A (p.Glu1045=) n.1984G>A | |
9 | g.133454517G>C | CA375410479 | ADAMTS13 | c.3147G>C (p.Glu1049Asp) c.3054G>C (p.Glu1018Asp) c.*616G>C (n.*616G>C) n.1963G>C n.1982G>C c.2757G>C (p.Glu919Asp) c.2163G>C (p.Glu721Asp) c.2157G>C (p.Glu719Asp) c.1812G>C (p.Glu604Asp) c.1413G>C (p.Glu471Asp) c.3135G>C (p.Glu1045Asp) n.1984G>C | gnomAD v4 |
9 | g.133454517G>T | CA375410486 | ADAMTS13 | c.3147G>T (p.Glu1049Asp) c.3054G>T (p.Glu1018Asp) c.*616G>T (n.*616G>T) n.1963G>T n.1982G>T c.2757G>T (p.Glu919Asp) c.2163G>T (p.Glu721Asp) c.2157G>T (p.Glu719Asp) c.1812G>T (p.Glu604Asp) c.1413G>T (p.Glu471Asp) c.3135G>T (p.Glu1045Asp) n.1984G>T | |
9 | g.133454518G>A | CA375410488 | ADAMTS13 | c.3148G>A (p.Val1050Met) c.3055G>A (p.Val1019Met) c.*617G>A (n.*617G>A) n.1964G>A n.1983G>A c.2758G>A (p.Val920Met) c.2164G>A (p.Val722Met) c.2158G>A (p.Val720Met) c.1813G>A (p.Val605Met) c.1414G>A (p.Val472Met) c.3136G>A (p.Val1046Met) n.1985G>A | |
9 | g.133454518G>C | CA375410491 | ADAMTS13 | c.3148G>C (p.Val1050Leu) c.3055G>C (p.Val1019Leu) c.*617G>C (n.*617G>C) n.1964G>C n.1983G>C c.2758G>C (p.Val920Leu) c.2164G>C (p.Val722Leu) c.2158G>C (p.Val720Leu) c.1813G>C (p.Val605Leu) c.1414G>C (p.Val472Leu) c.3136G>C (p.Val1046Leu) n.1985G>C | dbSNP |
9 | g.133454518G= | CA1882681631 | ADAMTS13 | c.3148G= (p.Val1050=) c.3055G= (p.Val1019=) c.*617G= (n.*617G=) n.1964G= n.1983G= c.2758G= (p.Val920=) c.2164G= (p.Val722=) c.2158G= (p.Val720=) c.1813G= (p.Val605=) c.1414G= (p.Val472=) c.3136G= (p.Val1046=) n.1985G= | |
9 | g.133454518G>T | CA375410497 | ADAMTS13 | c.3148G>T (p.Val1050Leu) c.3055G>T (p.Val1019Leu) c.*617G>T (n.*617G>T) n.1964G>T n.1983G>T c.2758G>T (p.Val920Leu) c.2164G>T (p.Val722Leu) c.2158G>T (p.Val720Leu) c.1813G>T (p.Val605Leu) c.1414G>T (p.Val472Leu) c.3136G>T (p.Val1046Leu) n.1985G>T | |
9 | g.133454519T>A | CA375410501 | ADAMTS13 | c.3149T>A (p.Val1050Glu) c.3056T>A (p.Val1019Glu) c.*618T>A (n.*618T>A) n.1965T>A n.1984T>A c.2759T>A (p.Val920Glu) c.2165T>A (p.Val722Glu) c.2159T>A (p.Val720Glu) c.1814T>A (p.Val605Glu) c.1415T>A (p.Val472Glu) c.3137T>A (p.Val1046Glu) n.1986T>A | |
9 | g.133454519T>C | CA375410504 | ADAMTS13 | c.3149T>C (p.Val1050Ala) c.3056T>C (p.Val1019Ala) c.*618T>C (n.*618T>C) n.1965T>C n.1984T>C c.2759T>C (p.Val920Ala) c.2165T>C (p.Val722Ala) c.2159T>C (p.Val720Ala) c.1814T>C (p.Val605Ala) c.1415T>C (p.Val472Ala) c.3137T>C (p.Val1046Ala) n.1986T>C | |
9 | g.133454519T>G | CA375410514 | ADAMTS13 | c.3149T>G (p.Val1050Gly) c.3056T>G (p.Val1019Gly) c.*618T>G (n.*618T>G) n.1965T>G n.1984T>G c.2759T>G (p.Val920Gly) c.2165T>G (p.Val722Gly) c.2159T>G (p.Val720Gly) c.1814T>G (p.Val605Gly) c.1415T>G (p.Val472Gly) c.3137T>G (p.Val1046Gly) n.1986T>G | dbSNP |
9 | g.133454519T= | CA1882681632 | ADAMTS13 | c.3149T= (p.Val1050=) c.3056T= (p.Val1019=) c.*618T= (n.*618T=) n.1965T= n.1984T= c.2759T= (p.Val920=) c.2165T= (p.Val722=) c.2159T= (p.Val720=) c.1814T= (p.Val605=) c.1415T= (p.Val472=) c.3137T= (p.Val1046=) n.1986T= | |
9 | g.133454520G>A | CA200943146 | ADAMTS13 | c.3150G>A (p.Val1050=) c.3057G>A (p.Val1019=) c.*619G>A (n.*619G>A) n.1966G>A n.1985G>A c.2760G>A (p.Val920=) c.2166G>A (p.Val722=) c.2160G>A (p.Val720=) c.1815G>A (p.Val605=) c.1416G>A (p.Val472=) c.3138G>A (p.Val1046=) n.1987G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454520G= | CA1882681633 | ADAMTS13 | c.3150G= (p.Val1050=) c.3057G= (p.Val1019=) c.*619G= (n.*619G=) n.1966G= n.1985G= c.2760G= (p.Val920=) c.2166G= (p.Val722=) c.2160G= (p.Val720=) c.1815G= (p.Val605=) c.1416G= (p.Val472=) c.3138G= (p.Val1046=) n.1987G= | |
9 | g.133454521G>A | CA375410533 | ADAMTS13 | c.3151G>A (p.Asp1051Asn) c.3058G>A (p.Asp1020Asn) c.*620G>A (n.*620G>A) n.1967G>A n.1986G>A c.2761G>A (p.Asp921Asn) c.2167G>A (p.Asp723Asn) c.2161G>A (p.Asp721Asn) c.1816G>A (p.Asp606Asn) c.1417G>A (p.Asp473Asn) c.3139G>A (p.Asp1047Asn) n.1988G>A | |
9 | g.133454521G>C | CA375410530 | ADAMTS13 | c.3151G>C (p.Asp1051His) c.3058G>C (p.Asp1020His) c.*620G>C (n.*620G>C) n.1967G>C n.1986G>C c.2761G>C (p.Asp921His) c.2167G>C (p.Asp723His) c.2161G>C (p.Asp721His) c.1816G>C (p.Asp606His) c.1417G>C (p.Asp473His) c.3139G>C (p.Asp1047His) n.1988G>C | |
9 | g.133454521G>T | CA375410531 | ADAMTS13 | c.3151G>T (p.Asp1051Tyr) c.3058G>T (p.Asp1020Tyr) c.*620G>T (n.*620G>T) n.1967G>T n.1986G>T c.2761G>T (p.Asp921Tyr) c.2167G>T (p.Asp723Tyr) c.2161G>T (p.Asp721Tyr) c.1816G>T (p.Asp606Tyr) c.1417G>T (p.Asp473Tyr) c.3139G>T (p.Asp1047Tyr) n.1988G>T | gnomAD v4 |
9 | g.133454522A= | CA1882681634 | ADAMTS13 | c.3152A= (p.Asp1051=) c.3059A= (p.Asp1020=) c.*621A= (n.*621A=) n.1968A= n.1987A= c.2762A= (p.Asp921=) c.2168A= (p.Asp723=) c.2162A= (p.Asp721=) c.1817A= (p.Asp606=) c.1418A= (p.Asp473=) c.3140A= (p.Asp1047=) n.1989A= | |
9 | g.133454522A>C | CA375410536 | ADAMTS13 | c.3152A>C (p.Asp1051Ala) c.3059A>C (p.Asp1020Ala) c.*621A>C (n.*621A>C) n.1968A>C n.1987A>C c.2762A>C (p.Asp921Ala) c.2168A>C (p.Asp723Ala) c.2162A>C (p.Asp721Ala) c.1817A>C (p.Asp606Ala) c.1418A>C (p.Asp473Ala) c.3140A>C (p.Asp1047Ala) n.1989A>C | |
9 | g.133454522A>G | CA375410540 | ADAMTS13 | c.3152A>G (p.Asp1051Gly) c.3059A>G (p.Asp1020Gly) c.*621A>G (n.*621A>G) n.1968A>G n.1987A>G c.2762A>G (p.Asp921Gly) c.2168A>G (p.Asp723Gly) c.2162A>G (p.Asp721Gly) c.1817A>G (p.Asp606Gly) c.1418A>G (p.Asp473Gly) c.3140A>G (p.Asp1047Gly) n.1989A>G | |
9 | g.133454522A>T | CA200943148 | ADAMTS13 | c.3152A>T (p.Asp1051Val) c.3059A>T (p.Asp1020Val) c.*621A>T (n.*621A>T) n.1968A>T n.1987A>T c.2762A>T (p.Asp921Val) c.2168A>T (p.Asp723Val) c.2162A>T (p.Asp721Val) c.1817A>T (p.Asp606Val) c.1418A>T (p.Asp473Val) c.3140A>T (p.Asp1047Val) n.1989A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454523C>A | CA375410541 | ADAMTS13 | c.3153C>A (p.Asp1051Glu) c.3060C>A (p.Asp1020Glu) c.*622C>A (n.*622C>A) n.1969C>A n.1988C>A c.2763C>A (p.Asp921Glu) c.2169C>A (p.Asp723Glu) c.2163C>A (p.Asp721Glu) c.1818C>A (p.Asp606Glu) c.1419C>A (p.Asp473Glu) c.3141C>A (p.Asp1047Glu) n.1990C>A | |
9 | g.133454523C= | CA1882681635 | ADAMTS13 | c.3153C= (p.Asp1051=) c.3060C= (p.Asp1020=) c.*622C= (n.*622C=) n.1969C= n.1988C= c.2763C= (p.Asp921=) c.2169C= (p.Asp723=) c.2163C= (p.Asp721=) c.1818C= (p.Asp606=) c.1419C= (p.Asp473=) c.3141C= (p.Asp1047=) n.1990C= | |
9 | g.133454523C>G | CA375410543 | ADAMTS13 | c.3153C>G (p.Asp1051Glu) c.3060C>G (p.Asp1020Glu) c.*622C>G (n.*622C>G) n.1969C>G n.1988C>G c.2763C>G (p.Asp921Glu) c.2169C>G (p.Asp723Glu) c.2163C>G (p.Asp721Glu) c.1818C>G (p.Asp606Glu) c.1419C>G (p.Asp473Glu) c.3141C>G (p.Asp1047Glu) n.1990C>G | |
9 | g.133454523C>T | CA10632757 | ADAMTS13 | c.3153C>T (p.Asp1051=) c.3060C>T (p.Asp1020=) c.*622C>T (n.*622C>T) n.1969C>T n.1988C>T c.2763C>T (p.Asp921=) c.2169C>T (p.Asp723=) c.2163C>T (p.Asp721=) c.1818C>T (p.Asp606=) c.1419C>T (p.Asp473=) c.3141C>T (p.Asp1047=) n.1990C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454524G>A | CA375410550 | ADAMTS13 | c.3154G>A (p.Glu1052Lys) c.3061G>A (p.Glu1021Lys) c.*623G>A (n.*623G>A) n.1970G>A n.1989G>A c.2764G>A (p.Glu922Lys) c.2170G>A (p.Glu724Lys) c.2164G>A (p.Glu722Lys) c.1819G>A (p.Glu607Lys) c.1420G>A (p.Glu474Lys) c.3142G>A (p.Glu1048Lys) n.1991G>A | ClinVar dbSNP gnomAD v4 COSMIC |
9 | g.133454524G>C | CA375410552 | ADAMTS13 | c.3154G>C (p.Glu1052Gln) c.3061G>C (p.Glu1021Gln) c.*623G>C (n.*623G>C) n.1970G>C n.1989G>C c.2764G>C (p.Glu922Gln) c.2170G>C (p.Glu724Gln) c.2164G>C (p.Glu722Gln) c.1819G>C (p.Glu607Gln) c.1420G>C (p.Glu474Gln) c.3142G>C (p.Glu1048Gln) n.1991G>C | |
9 | g.133454524G= | CA1882681636 | ADAMTS13 | c.3154G= (p.Glu1052=) c.3061G= (p.Glu1021=) c.*623G= (n.*623G=) n.1970G= n.1989G= c.2764G= (p.Glu922=) c.2170G= (p.Glu724=) c.2164G= (p.Glu722=) c.1819G= (p.Glu607=) c.1420G= (p.Glu474=) c.3142G= (p.Glu1048=) n.1991G= | |
9 | g.133454524G>T | CA375410566 | ADAMTS13 | c.3154G>T (p.Glu1052Ter) c.3061G>T (p.Glu1021Ter) c.*623G>T (n.*623G>T) n.1970G>T n.1989G>T c.2764G>T (p.Glu922Ter) c.2170G>T (p.Glu724Ter) c.2164G>T (p.Glu722Ter) c.1819G>T (p.Glu607Ter) c.1420G>T (p.Glu474Ter) c.3142G>T (p.Glu1048Ter) n.1991G>T | gnomAD v4 |
9 | g.133454525A>C | CA375410568 | ADAMTS13 | c.3155A>C (p.Glu1052Ala) c.3062A>C (p.Glu1021Ala) c.*624A>C (n.*624A>C) n.1971A>C n.1990A>C c.2765A>C (p.Glu922Ala) c.2171A>C (p.Glu724Ala) c.2165A>C (p.Glu722Ala) c.1820A>C (p.Glu607Ala) c.1421A>C (p.Glu474Ala) c.3143A>C (p.Glu1048Ala) n.1992A>C | |
9 | g.133454525A>G | CA375410570 | ADAMTS13 | c.3155A>G (p.Glu1052Gly) c.3062A>G (p.Glu1021Gly) c.*624A>G (n.*624A>G) n.1971A>G n.1990A>G c.2765A>G (p.Glu922Gly) c.2171A>G (p.Glu724Gly) c.2165A>G (p.Glu722Gly) c.1820A>G (p.Glu607Gly) c.1421A>G (p.Glu474Gly) c.3143A>G (p.Glu1048Gly) n.1992A>G | |
9 | g.133454525A>T | CA375410572 | ADAMTS13 | c.3155A>T (p.Glu1052Val) c.3062A>T (p.Glu1021Val) c.*624A>T (n.*624A>T) n.1971A>T n.1990A>T c.2765A>T (p.Glu922Val) c.2171A>T (p.Glu724Val) c.2165A>T (p.Glu722Val) c.1820A>T (p.Glu607Val) c.1421A>T (p.Glu474Val) c.3143A>T (p.Glu1048Val) n.1992A>T | |
9 | g.133454526G>C | CA375410578 | ADAMTS13 | c.3156G>C (p.Glu1052Asp) c.3063G>C (p.Glu1021Asp) c.*625G>C (n.*625G>C) n.1972G>C n.1991G>C c.2766G>C (p.Glu922Asp) c.2172G>C (p.Glu724Asp) c.2166G>C (p.Glu722Asp) c.1821G>C (p.Glu607Asp) c.1422G>C (p.Glu474Asp) c.3144G>C (p.Glu1048Asp) n.1993G>C | |
9 | g.133454526G>T | CA375410575 | ADAMTS13 | c.3156G>T (p.Glu1052Asp) c.3063G>T (p.Glu1021Asp) c.*625G>T (n.*625G>T) n.1972G>T n.1991G>T c.2766G>T (p.Glu922Asp) c.2172G>T (p.Glu724Asp) c.2166G>T (p.Glu722Asp) c.1821G>T (p.Glu607Asp) c.1422G>T (p.Glu474Asp) c.3144G>T (p.Glu1048Asp) n.1993G>T | gnomAD v4 |
9 | g.133454527G>A | CA375410582 | ADAMTS13 | c.3157G>A (p.Ala1053Thr) c.3064G>A (p.Ala1022Thr) c.*626G>A (n.*626G>A) n.1973G>A n.1992G>A c.2767G>A (p.Ala923Thr) c.2173G>A (p.Ala725Thr) c.2167G>A (p.Ala723Thr) c.1822G>A (p.Ala608Thr) c.1423G>A (p.Ala475Thr) c.3145G>A (p.Ala1049Thr) n.1994G>A | dbSNP gnomAD v4 |
9 | g.133454527G>C | CA375410583 | ADAMTS13 | c.3157G>C (p.Ala1053Pro) c.3064G>C (p.Ala1022Pro) c.*626G>C (n.*626G>C) n.1973G>C n.1992G>C c.2767G>C (p.Ala923Pro) c.2173G>C (p.Ala725Pro) c.2167G>C (p.Ala723Pro) c.1822G>C (p.Ala608Pro) c.1423G>C (p.Ala475Pro) c.3145G>C (p.Ala1049Pro) n.1994G>C | |
9 | g.133454527G= | CA1882681637 | ADAMTS13 | c.3157G= (p.Ala1053=) c.3064G= (p.Ala1022=) c.*626G= (n.*626G=) n.1973G= n.1992G= c.2767G= (p.Ala923=) c.2173G= (p.Ala725=) c.2167G= (p.Ala723=) c.1822G= (p.Ala608=) c.1423G= (p.Ala475=) c.3145G= (p.Ala1049=) n.1994G= | |
9 | g.133454527G>T | CA200943152 | ADAMTS13 | c.3157G>T (p.Ala1053Ser) c.3064G>T (p.Ala1022Ser) c.*626G>T (n.*626G>T) n.1973G>T n.1992G>T c.2767G>T (p.Ala923Ser) c.2173G>T (p.Ala725Ser) c.2167G>T (p.Ala723Ser) c.1822G>T (p.Ala608Ser) c.1423G>T (p.Ala475Ser) c.3145G>T (p.Ala1049Ser) n.1994G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454528C>A | CA375410584 | ADAMTS13 | c.3158C>A (p.Ala1053Glu) c.3065C>A (p.Ala1022Glu) c.*627C>A (n.*627C>A) n.1974C>A n.1993C>A c.2768C>A (p.Ala923Glu) c.2174C>A (p.Ala725Glu) c.2168C>A (p.Ala723Glu) c.1823C>A (p.Ala608Glu) c.1424C>A (p.Ala475Glu) c.3146C>A (p.Ala1049Glu) n.1995C>A | dbSNP gnomAD v4 |
9 | g.133454528C= | CA1882681638 | ADAMTS13 | c.3158C= (p.Ala1053=) c.3065C= (p.Ala1022=) c.*627C= (n.*627C=) n.1974C= n.1993C= c.2768C= (p.Ala923=) c.2174C= (p.Ala725=) c.2168C= (p.Ala723=) c.1823C= (p.Ala608=) c.1424C= (p.Ala475=) c.3146C= (p.Ala1049=) n.1995C= | |
9 | g.133454528C>G | CA375410587 | ADAMTS13 | c.3158C>G (p.Ala1053Gly) c.3065C>G (p.Ala1022Gly) c.*627C>G (n.*627C>G) n.1974C>G n.1993C>G c.2768C>G (p.Ala923Gly) c.2174C>G (p.Ala725Gly) c.2168C>G (p.Ala723Gly) c.1823C>G (p.Ala608Gly) c.1424C>G (p.Ala475Gly) c.3146C>G (p.Ala1049Gly) n.1995C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454528C>T | CA200943158 | ADAMTS13 | c.3158C>T (p.Ala1053Val) c.3065C>T (p.Ala1022Val) c.*627C>T (n.*627C>T) n.1974C>T n.1993C>T c.2768C>T (p.Ala923Val) c.2174C>T (p.Ala725Val) c.2168C>T (p.Ala723Val) c.1823C>T (p.Ala608Val) c.1424C>T (p.Ala475Val) c.3146C>T (p.Ala1049Val) n.1995C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.133454529G>A | CA10587046 | ADAMTS13 | c.3159G>A (p.Ala1053=) c.3066G>A (p.Ala1022=) c.*628G>A (n.*628G>A) n.1975G>A n.1994G>A c.2769G>A (p.Ala923=) c.2175G>A (p.Ala725=) c.2169G>A (p.Ala723=) c.1824G>A (p.Ala608=) c.1425G>A (p.Ala475=) c.3147G>A (p.Ala1049=) n.1996G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454529G>C | CA2786169835 | ADAMTS13 | c.3159G>C (p.Ala1053=) c.3066G>C (p.Ala1022=) c.*628G>C (n.*628G>C) n.1975G>C n.1994G>C c.2769G>C (p.Ala923=) c.2175G>C (p.Ala725=) c.2169G>C (p.Ala723=) c.1824G>C (p.Ala608=) c.1425G>C (p.Ala475=) c.3147G>C (p.Ala1049=) n.1996G>C | |
9 | g.133454529G= | CA1882681639 | ADAMTS13 | c.3159G= (p.Ala1053=) c.3066G= (p.Ala1022=) c.*628G= (n.*628G=) n.1975G= n.1994G= c.2769G= (p.Ala923=) c.2175G= (p.Ala725=) c.2169G= (p.Ala723=) c.1824G= (p.Ala608=) c.1425G= (p.Ala475=) c.3147G= (p.Ala1049=) n.1996G= | |
9 | g.133454529G>T | CA2692361597 | ADAMTS13 | c.3159G>T (p.Ala1053=) c.3066G>T (p.Ala1022=) c.*628G>T (n.*628G>T) n.1975G>T n.1994G>T c.2769G>T (p.Ala923=) c.2175G>T (p.Ala725=) c.2169G>T (p.Ala723=) c.1824G>T (p.Ala608=) c.1425G>T (p.Ala475=) c.3147G>T (p.Ala1049=) n.1996G>T | gnomAD v4 |
9 | g.133454530G>A | CA375410590 | ADAMTS13 | c.3160G>A (p.Ala1054Thr) c.3067G>A (p.Ala1023Thr) c.*629G>A (n.*629G>A) n.1976G>A n.1995G>A c.2770G>A (p.Ala924Thr) c.2176G>A (p.Ala726Thr) c.2170G>A (p.Ala724Thr) c.1825G>A (p.Ala609Thr) c.1426G>A (p.Ala476Thr) c.3148G>A (p.Ala1050Thr) n.1997G>A | dbSNP |
9 | g.133454530G>C | CA375410593 | ADAMTS13 | c.3160G>C (p.Ala1054Pro) c.3067G>C (p.Ala1023Pro) c.*629G>C (n.*629G>C) n.1976G>C n.1995G>C c.2770G>C (p.Ala924Pro) c.2176G>C (p.Ala726Pro) c.2170G>C (p.Ala724Pro) c.1825G>C (p.Ala609Pro) c.1426G>C (p.Ala476Pro) c.3148G>C (p.Ala1050Pro) n.1997G>C | |
9 | g.133454530G= | CA1882681640 | ADAMTS13 | c.3160G= (p.Ala1054=) c.3067G= (p.Ala1023=) c.*629G= (n.*629G=) n.1976G= n.1995G= c.2770G= (p.Ala924=) c.2176G= (p.Ala726=) c.2170G= (p.Ala724=) c.1825G= (p.Ala609=) c.1426G= (p.Ala476=) c.3148G= (p.Ala1050=) n.1997G= | |
9 | g.133454530G>T | CA375410596 | ADAMTS13 | c.3160G>T (p.Ala1054Ser) c.3067G>T (p.Ala1023Ser) c.*629G>T (n.*629G>T) n.1976G>T n.1995G>T c.2770G>T (p.Ala924Ser) c.2176G>T (p.Ala726Ser) c.2170G>T (p.Ala724Ser) c.1825G>T (p.Ala609Ser) c.1426G>T (p.Ala476Ser) c.3148G>T (p.Ala1050Ser) n.1997G>T | gnomAD v4 |
9 | g.133454531C>A | CA375410614 | ADAMTS13 | c.3161C>A (p.Ala1054Asp) c.3068C>A (p.Ala1023Asp) c.*630C>A (n.*630C>A) n.1977C>A n.1996C>A c.2771C>A (p.Ala924Asp) c.2177C>A (p.Ala726Asp) c.2171C>A (p.Ala724Asp) c.1826C>A (p.Ala609Asp) c.1427C>A (p.Ala476Asp) c.3149C>A (p.Ala1050Asp) n.1998C>A | |
9 | g.133454531C= | CA1882681641 | ADAMTS13 | c.3161C= (p.Ala1054=) c.3068C= (p.Ala1023=) c.*630C= (n.*630C=) n.1977C= n.1996C= c.2771C= (p.Ala924=) c.2177C= (p.Ala726=) c.2171C= (p.Ala724=) c.1826C= (p.Ala609=) c.1427C= (p.Ala476=) c.3149C= (p.Ala1050=) n.1998C= | |
9 | g.133454531C>G | CA375410615 | ADAMTS13 | c.3161C>G (p.Ala1054Gly) c.3068C>G (p.Ala1023Gly) c.*630C>G (n.*630C>G) n.1977C>G n.1996C>G c.2771C>G (p.Ala924Gly) c.2177C>G (p.Ala726Gly) c.2171C>G (p.Ala724Gly) c.1826C>G (p.Ala609Gly) c.1427C>G (p.Ala476Gly) c.3149C>G (p.Ala1050Gly) n.1998C>G | |
9 | g.133454531C>T | CA375410617 | ADAMTS13 | c.3161C>T (p.Ala1054Val) c.3068C>T (p.Ala1023Val) c.*630C>T (n.*630C>T) n.1977C>T n.1996C>T c.2771C>T (p.Ala924Val) c.2177C>T (p.Ala726Val) c.2171C>T (p.Ala724Val) c.1826C>T (p.Ala609Val) c.1427C>T (p.Ala476Val) c.3149C>T (p.Ala1050Val) n.1998C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454532C>A | CA2692361603 | ADAMTS13 | c.3162C>A (p.Ala1054=) c.3069C>A (p.Ala1023=) c.*631C>A (n.*631C>A) n.1978C>A n.1997C>A c.2772C>A (p.Ala924=) c.2178C>A (p.Ala726=) c.2172C>A (p.Ala724=) c.1827C>A (p.Ala609=) c.1428C>A (p.Ala476=) c.3150C>A (p.Ala1050=) n.1999C>A | gnomAD v4 |
9 | g.133454532C= | CA1882681642 | ADAMTS13 | c.3162C= (p.Ala1054=) c.3069C= (p.Ala1023=) c.*631C= (n.*631C=) n.1978C= n.1997C= c.2772C= (p.Ala924=) c.2178C= (p.Ala726=) c.2172C= (p.Ala724=) c.1827C= (p.Ala609=) c.1428C= (p.Ala476=) c.3150C= (p.Ala1050=) n.1999C= | |
9 | g.133454532C>T | CA860742212 | ADAMTS13 | c.3162C>T (p.Ala1054=) c.3069C>T (p.Ala1023=) c.*631C>T (n.*631C>T) n.1978C>T n.1997C>T c.2772C>T (p.Ala924=) c.2178C>T (p.Ala726=) c.2172C>T (p.Ala724=) c.1827C>T (p.Ala609=) c.1428C>T (p.Ala476=) c.3150C>T (p.Ala1050=) n.1999C>T | dbSNP gnomAD v4 |
9 | g.133454533T>A | CA375410618 | ADAMTS13 | c.3163T>A (p.Cys1055Ser) c.3070T>A (p.Cys1024Ser) c.*632T>A (n.*632T>A) n.1979T>A n.1998T>A c.2773T>A (p.Cys925Ser) c.2179T>A (p.Cys727Ser) c.2173T>A (p.Cys725Ser) c.1828T>A (p.Cys610Ser) c.1429T>A (p.Cys477Ser) c.3151T>A (p.Cys1051Ser) n.2000T>A | |
9 | g.133454533T>C | CA375410620 | ADAMTS13 | c.3163T>C (p.Cys1055Arg) c.3070T>C (p.Cys1024Arg) c.*632T>C (n.*632T>C) n.1979T>C n.1998T>C c.2773T>C (p.Cys925Arg) c.2179T>C (p.Cys727Arg) c.2173T>C (p.Cys725Arg) c.1828T>C (p.Cys610Arg) c.1429T>C (p.Cys477Arg) c.3151T>C (p.Cys1051Arg) n.2000T>C | |
9 | g.133454533T>G | CA375410619 | ADAMTS13 | c.3163T>G (p.Cys1055Gly) c.3070T>G (p.Cys1024Gly) c.*632T>G (n.*632T>G) n.1979T>G n.1998T>G c.2773T>G (p.Cys925Gly) c.2179T>G (p.Cys727Gly) c.2173T>G (p.Cys725Gly) c.1828T>G (p.Cys610Gly) c.1429T>G (p.Cys477Gly) c.3151T>G (p.Cys1051Gly) n.2000T>G | |
9 | g.133454534G>A | CA375410622 | ADAMTS13 | c.3164G>A (p.Cys1055Tyr) c.3071G>A (p.Cys1024Tyr) c.*633G>A (n.*633G>A) n.1980G>A n.1999G>A c.2774G>A (p.Cys925Tyr) c.2180G>A (p.Cys727Tyr) c.2174G>A (p.Cys725Tyr) c.1829G>A (p.Cys610Tyr) c.1430G>A (p.Cys477Tyr) c.3152G>A (p.Cys1051Tyr) n.2001G>A | |
9 | g.133454534G>C | CA375410624 | ADAMTS13 | c.3164G>C (p.Cys1055Ser) c.3071G>C (p.Cys1024Ser) c.*633G>C (n.*633G>C) n.1980G>C n.1999G>C c.2774G>C (p.Cys925Ser) c.2180G>C (p.Cys727Ser) c.2174G>C (p.Cys725Ser) c.1829G>C (p.Cys610Ser) c.1430G>C (p.Cys477Ser) c.3152G>C (p.Cys1051Ser) n.2001G>C | gnomAD v4 |
9 | g.133454534G>T | CA375410626 | ADAMTS13 | c.3164G>T (p.Cys1055Phe) c.3071G>T (p.Cys1024Phe) c.*633G>T (n.*633G>T) n.1980G>T n.1999G>T c.2774G>T (p.Cys925Phe) c.2180G>T (p.Cys727Phe) c.2174G>T (p.Cys725Phe) c.1829G>T (p.Cys610Phe) c.1430G>T (p.Cys477Phe) c.3152G>T (p.Cys1051Phe) n.2001G>T | |
9 | g.133454535T>A | CA375410628 | ADAMTS13 | c.3165T>A (p.Cys1055Ter) c.3072T>A (p.Cys1024Ter) c.*634T>A (n.*634T>A) n.1981T>A n.2000T>A c.2775T>A (p.Cys925Ter) c.2181T>A (p.Cys727Ter) c.2175T>A (p.Cys725Ter) c.1830T>A (p.Cys610Ter) c.1431T>A (p.Cys477Ter) c.3153T>A (p.Cys1051Ter) n.2002T>A | |
9 | g.133454535T>G | CA375410631 | ADAMTS13 | c.3165T>G (p.Cys1055Trp) c.3072T>G (p.Cys1024Trp) c.*634T>G (n.*634T>G) n.1981T>G n.2000T>G c.2775T>G (p.Cys925Trp) c.2181T>G (p.Cys727Trp) c.2175T>G (p.Cys725Trp) c.1830T>G (p.Cys610Trp) c.1431T>G (p.Cys477Trp) c.3153T>G (p.Cys1051Trp) n.2002T>G | dbSNP |
9 | g.133454535T= | CA1882681643 | ADAMTS13 | c.3165T= (p.Cys1055=) c.3072T= (p.Cys1024=) c.*634T= (n.*634T=) n.1981T= n.2000T= c.2775T= (p.Cys925=) c.2181T= (p.Cys727=) c.2175T= (p.Cys725=) c.1830T= (p.Cys610=) c.1431T= (p.Cys477=) c.3153T= (p.Cys1051=) n.2002T= | |
9 | g.133454536G>A | CA375410634 | ADAMTS13 | c.3166G>A (p.Ala1056Thr) c.3073G>A (p.Ala1025Thr) c.*635G>A (n.*635G>A) n.1982G>A n.2001G>A c.2776G>A (p.Ala926Thr) c.2182G>A (p.Ala728Thr) c.2176G>A (p.Ala726Thr) c.1831G>A (p.Ala611Thr) c.1432G>A (p.Ala478Thr) c.3154G>A (p.Ala1052Thr) n.2003G>A | |
9 | g.133454536G>C | CA375410635 | ADAMTS13 | c.3166G>C (p.Ala1056Pro) c.3073G>C (p.Ala1025Pro) c.*635G>C (n.*635G>C) n.1982G>C n.2001G>C c.2776G>C (p.Ala926Pro) c.2182G>C (p.Ala728Pro) c.2176G>C (p.Ala726Pro) c.1831G>C (p.Ala611Pro) c.1432G>C (p.Ala478Pro) c.3154G>C (p.Ala1052Pro) n.2003G>C | |
9 | g.133454536G>T | CA375410638 | ADAMTS13 | c.3166G>T (p.Ala1056Ser) c.3073G>T (p.Ala1025Ser) c.*635G>T (n.*635G>T) n.1982G>T n.2001G>T c.2776G>T (p.Ala926Ser) c.2182G>T (p.Ala728Ser) c.2176G>T (p.Ala726Ser) c.1831G>T (p.Ala611Ser) c.1432G>T (p.Ala478Ser) c.3154G>T (p.Ala1052Ser) n.2003G>T | gnomAD v4 |
9 | g.133454537C>A | CA375410639 | ADAMTS13 | c.3167C>A (p.Ala1056Glu) c.3074C>A (p.Ala1025Glu) c.*636C>A (n.*636C>A) n.1983C>A n.2002C>A c.2777C>A (p.Ala926Glu) c.2183C>A (p.Ala728Glu) c.2177C>A (p.Ala726Glu) c.1832C>A (p.Ala611Glu) c.1433C>A (p.Ala478Glu) c.3155C>A (p.Ala1052Glu) n.2004C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454537C= | CA1882681644 | ADAMTS13 | c.3167C= (p.Ala1056=) c.3074C= (p.Ala1025=) c.*636C= (n.*636C=) n.1983C= n.2002C= c.2777C= (p.Ala926=) c.2183C= (p.Ala728=) c.2177C= (p.Ala726=) c.1832C= (p.Ala611=) c.1433C= (p.Ala478=) c.3155C= (p.Ala1052=) n.2004C= | |
9 | g.133454537C>G | CA200943165 | ADAMTS13 | c.3167C>G (p.Ala1056Gly) c.3074C>G (p.Ala1025Gly) c.*636C>G (n.*636C>G) n.1983C>G n.2002C>G c.2777C>G (p.Ala926Gly) c.2183C>G (p.Ala728Gly) c.2177C>G (p.Ala726Gly) c.1832C>G (p.Ala611Gly) c.1433C>G (p.Ala478Gly) c.3155C>G (p.Ala1052Gly) n.2004C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454537C>T | CA200943168 | ADAMTS13 | c.3167C>T (p.Ala1056Val) c.3074C>T (p.Ala1025Val) c.*636C>T (n.*636C>T) n.1983C>T n.2002C>T c.2777C>T (p.Ala926Val) c.2183C>T (p.Ala728Val) c.2177C>T (p.Ala726Val) c.1832C>T (p.Ala611Val) c.1433C>T (p.Ala478Val) c.3155C>T (p.Ala1052Val) n.2004C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454538G>A | CA200943170 | ADAMTS13 | c.3168G>A (p.Ala1056=) c.3075G>A (p.Ala1025=) c.*637G>A (n.*637G>A) n.1984G>A n.2003G>A c.2778G>A (p.Ala926=) c.2184G>A (p.Ala728=) c.2178G>A (p.Ala726=) c.1833G>A (p.Ala611=) c.1434G>A (p.Ala478=) c.3156G>A (p.Ala1052=) n.2005G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454538G= | CA1882681645 | ADAMTS13 | c.3168G= (p.Ala1056=) c.3075G= (p.Ala1025=) c.*637G= (n.*637G=) n.1984G= n.2003G= c.2778G= (p.Ala926=) c.2184G= (p.Ala728=) c.2178G= (p.Ala726=) c.1833G= (p.Ala611=) c.1434G= (p.Ala478=) c.3156G= (p.Ala1052=) n.2005G= | |
9 | g.133454539G>A | CA375410649 | ADAMTS13 | c.3169G>A (p.Ala1057Thr) c.3076G>A (p.Ala1026Thr) c.*638G>A (n.*638G>A) n.1985G>A n.2004G>A c.2779G>A (p.Ala927Thr) c.2185G>A (p.Ala729Thr) c.2179G>A (p.Ala727Thr) c.1834G>A (p.Ala612Thr) c.1435G>A (p.Ala479Thr) c.3157G>A (p.Ala1053Thr) n.2006G>A | dbSNP |
9 | g.133454539G>C | CA375410643 | ADAMTS13 | c.3169G>C (p.Ala1057Pro) c.3076G>C (p.Ala1026Pro) c.*638G>C (n.*638G>C) n.1985G>C n.2004G>C c.2779G>C (p.Ala927Pro) c.2185G>C (p.Ala729Pro) c.2179G>C (p.Ala727Pro) c.1834G>C (p.Ala612Pro) c.1435G>C (p.Ala479Pro) c.3157G>C (p.Ala1053Pro) n.2006G>C | |
9 | g.133454539G= | CA1882681646 | ADAMTS13 | c.3169G= (p.Ala1057=) c.3076G= (p.Ala1026=) c.*638G= (n.*638G=) n.1985G= n.2004G= c.2779G= (p.Ala927=) c.2185G= (p.Ala729=) c.2179G= (p.Ala727=) c.1834G= (p.Ala612=) c.1435G= (p.Ala479=) c.3157G= (p.Ala1053=) n.2006G= | |
9 | g.133454539G>T | CA375410645 | ADAMTS13 | c.3169G>T (p.Ala1057Ser) c.3076G>T (p.Ala1026Ser) c.*638G>T (n.*638G>T) n.1985G>T n.2004G>T c.2779G>T (p.Ala927Ser) c.2185G>T (p.Ala729Ser) c.2179G>T (p.Ala727Ser) c.1834G>T (p.Ala612Ser) c.1435G>T (p.Ala479Ser) c.3157G>T (p.Ala1053Ser) n.2006G>T | gnomAD v4 |
9 | g.133454542_133454549del | CA2786169840 | ADAMTS13 | c.3172_3179del (p.Leu1058AlafsTer?) c.3079_3086del (p.Leu1027AlafsTer?) c.*641_*648del (n.*641_*648del) n.1988_1995del n.2007_2014del c.2782_2789del (p.Leu928AlafsTer?) c.2188_2195del (p.Leu730AlafsTer?) c.2182_2189del (p.Leu728AlafsTer?) c.1837_1844del (p.Leu613AlafsTer?) c.1438_1445del (p.Leu480AlafsTer?) c.3160_3167del (p.Leu1054AlafsTer?) n.2009_2016del | |
9 | g.133454540C>A | CA375410653 | ADAMTS13 | c.3170C>A (p.Ala1057Glu) c.3077C>A (p.Ala1026Glu) c.*639C>A (n.*639C>A) n.1986C>A n.2005C>A c.2780C>A (p.Ala927Glu) c.2186C>A (p.Ala729Glu) c.2180C>A (p.Ala727Glu) c.1835C>A (p.Ala612Glu) c.1436C>A (p.Ala479Glu) c.3158C>A (p.Ala1053Glu) n.2007C>A | gnomAD v4 |
9 | g.133454540C= | CA1882681647 | ADAMTS13 | c.3170C= (p.Ala1057=) c.3077C= (p.Ala1026=) c.*639C= (n.*639C=) n.1986C= n.2005C= c.2780C= (p.Ala927=) c.2186C= (p.Ala729=) c.2180C= (p.Ala727=) c.1835C= (p.Ala612=) c.1436C= (p.Ala479=) c.3158C= (p.Ala1053=) n.2007C= | |
9 | g.133454540C>G | CA375410660 | ADAMTS13 | c.3170C>G (p.Ala1057Gly) c.3077C>G (p.Ala1026Gly) c.*639C>G (n.*639C>G) n.1986C>G n.2005C>G c.2780C>G (p.Ala927Gly) c.2186C>G (p.Ala729Gly) c.2180C>G (p.Ala727Gly) c.1835C>G (p.Ala612Gly) c.1436C>G (p.Ala479Gly) c.3158C>G (p.Ala1053Gly) n.2007C>G | |
9 | g.133454540C>T | CA200943173 | ADAMTS13 | c.3170C>T (p.Ala1057Val) c.3077C>T (p.Ala1026Val) c.*639C>T (n.*639C>T) n.1986C>T n.2005C>T c.2780C>T (p.Ala927Val) c.2186C>T (p.Ala729Val) c.2180C>T (p.Ala727Val) c.1835C>T (p.Ala612Val) c.1436C>T (p.Ala479Val) c.3158C>T (p.Ala1053Val) n.2007C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454541G>A | CA200943187 | ADAMTS13 | c.3171G>A (p.Ala1057=) c.3078G>A (p.Ala1026=) c.*640G>A (n.*640G>A) n.1987G>A n.2006G>A c.2781G>A (p.Ala927=) c.2187G>A (p.Ala729=) c.2181G>A (p.Ala727=) c.1836G>A (p.Ala612=) c.1437G>A (p.Ala479=) c.3159G>A (p.Ala1053=) n.2008G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454541G>C | CA860742233 | ADAMTS13 | c.3171G>C (p.Ala1057=) c.3078G>C (p.Ala1026=) c.*640G>C (n.*640G>C) n.1987G>C n.2006G>C c.2781G>C (p.Ala927=) c.2187G>C (p.Ala729=) c.2181G>C (p.Ala727=) c.1836G>C (p.Ala612=) c.1437G>C (p.Ala479=) c.3159G>C (p.Ala1053=) n.2008G>C | dbSNP gnomAD v4 |
9 | g.133454541G= | CA1882681648 | ADAMTS13 | c.3171G= (p.Ala1057=) c.3078G= (p.Ala1026=) c.*640G= (n.*640G=) n.1987G= n.2006G= c.2781G= (p.Ala927=) c.2187G= (p.Ala729=) c.2181G= (p.Ala727=) c.1836G= (p.Ala612=) c.1437G= (p.Ala479=) c.3159G= (p.Ala1053=) n.2008G= | |
9 | g.133454542C>A | CA375410665 | ADAMTS13 | c.3172C>A (p.Leu1058Met) c.3079C>A (p.Leu1027Met) c.*641C>A (n.*641C>A) n.1988C>A n.2007C>A c.2782C>A (p.Leu928Met) c.2188C>A (p.Leu730Met) c.2182C>A (p.Leu728Met) c.1837C>A (p.Leu613Met) c.1438C>A (p.Leu480Met) c.3160C>A (p.Leu1054Met) n.2009C>A | gnomAD v4 |
9 | g.133454542C= | CA1882681649 | ADAMTS13 | c.3172C= (p.Leu1058=) c.3079C= (p.Leu1027=) c.*641C= (n.*641C=) n.1988C= n.2007C= c.2782C= (p.Leu928=) c.2188C= (p.Leu730=) c.2182C= (p.Leu728=) c.1837C= (p.Leu613=) c.1438C= (p.Leu480=) c.3160C= (p.Leu1054=) n.2009C= | |
9 | g.133454542C>G | CA375410668 | ADAMTS13 | c.3172C>G (p.Leu1058Val) c.3079C>G (p.Leu1027Val) c.*641C>G (n.*641C>G) n.1988C>G n.2007C>G c.2782C>G (p.Leu928Val) c.2188C>G (p.Leu730Val) c.2182C>G (p.Leu728Val) c.1837C>G (p.Leu613Val) c.1438C>G (p.Leu480Val) c.3160C>G (p.Leu1054Val) n.2009C>G | dbSNP gnomAD v4 |
9 | g.133454542C>T | CA2692361632 | ADAMTS13 | c.3172C>T (p.Leu1058=) c.3079C>T (p.Leu1027=) c.*641C>T (n.*641C>T) n.1988C>T n.2007C>T c.2782C>T (p.Leu928=) c.2188C>T (p.Leu730=) c.2182C>T (p.Leu728=) c.1837C>T (p.Leu613=) c.1438C>T (p.Leu480=) c.3160C>T (p.Leu1054=) n.2009C>T | gnomAD v4 |
9 | g.133454543T>A | CA375410669 | ADAMTS13 | c.3173T>A (p.Leu1058Gln) c.3080T>A (p.Leu1027Gln) c.*642T>A (n.*642T>A) n.1989T>A n.2008T>A c.2783T>A (p.Leu928Gln) c.2189T>A (p.Leu730Gln) c.2183T>A (p.Leu728Gln) c.1838T>A (p.Leu613Gln) c.1439T>A (p.Leu480Gln) c.3161T>A (p.Leu1054Gln) n.2010T>A | |
9 | g.133454543T>C | CA375410670 | ADAMTS13 | c.3173T>C (p.Leu1058Pro) c.3080T>C (p.Leu1027Pro) c.*642T>C (n.*642T>C) n.1989T>C n.2008T>C c.2783T>C (p.Leu928Pro) c.2189T>C (p.Leu730Pro) c.2183T>C (p.Leu728Pro) c.1838T>C (p.Leu613Pro) c.1439T>C (p.Leu480Pro) c.3161T>C (p.Leu1054Pro) n.2010T>C | gnomAD v4 |
9 | g.133454543T>G | CA375410671 | ADAMTS13 | c.3173T>G (p.Leu1058Arg) c.3080T>G (p.Leu1027Arg) c.*642T>G (n.*642T>G) n.1989T>G n.2008T>G c.2783T>G (p.Leu928Arg) c.2189T>G (p.Leu730Arg) c.2183T>G (p.Leu728Arg) c.1838T>G (p.Leu613Arg) c.1439T>G (p.Leu480Arg) c.3161T>G (p.Leu1054Arg) n.2010T>G | |
9 | g.133454545G>A | CA375410675 | ADAMTS13 | c.3175G>A (p.Val1059Met) c.3082G>A (p.Val1028Met) c.*644G>A (n.*644G>A) n.1991G>A n.2010G>A c.2785G>A (p.Val929Met) c.2191G>A (p.Val731Met) c.2185G>A (p.Val729Met) c.1840G>A (p.Val614Met) c.1441G>A (p.Val481Met) c.3163G>A (p.Val1055Met) n.2012G>A | |
9 | g.133454545G>C | CA375410676 | ADAMTS13 | c.3175G>C (p.Val1059Leu) c.3082G>C (p.Val1028Leu) c.*644G>C (n.*644G>C) n.1991G>C n.2010G>C c.2785G>C (p.Val929Leu) c.2191G>C (p.Val731Leu) c.2185G>C (p.Val729Leu) c.1840G>C (p.Val614Leu) c.1441G>C (p.Val481Leu) c.3163G>C (p.Val1055Leu) n.2012G>C | |
9 | g.133454545G>T | CA375410678 | ADAMTS13 | c.3175G>T (p.Val1059Leu) c.3082G>T (p.Val1028Leu) c.*644G>T (n.*644G>T) n.1991G>T n.2010G>T c.2785G>T (p.Val929Leu) c.2191G>T (p.Val731Leu) c.2185G>T (p.Val729Leu) c.1840G>T (p.Val614Leu) c.1441G>T (p.Val481Leu) c.3163G>T (p.Val1055Leu) n.2012G>T | dbSNP gnomAD v4 |
9 | g.133454546T>A | CA375410681 | ADAMTS13 | c.3176T>A (p.Val1059Glu) c.3083T>A (p.Val1028Glu) c.*645T>A (n.*645T>A) n.1992T>A n.2011T>A c.2786T>A (p.Val929Glu) c.2192T>A (p.Val731Glu) c.2186T>A (p.Val729Glu) c.1841T>A (p.Val614Glu) c.1442T>A (p.Val481Glu) c.3164T>A (p.Val1055Glu) n.2013T>A | |
9 | g.133454546T>C | CA375410683 | ADAMTS13 | c.3176T>C (p.Val1059Ala) c.3083T>C (p.Val1028Ala) c.*645T>C (n.*645T>C) n.1992T>C n.2011T>C c.2786T>C (p.Val929Ala) c.2192T>C (p.Val731Ala) c.2186T>C (p.Val729Ala) c.1841T>C (p.Val614Ala) c.1442T>C (p.Val481Ala) c.3164T>C (p.Val1055Ala) n.2013T>C | |
9 | g.133454546T>G | CA375410679 | ADAMTS13 | c.3176T>G (p.Val1059Gly) c.3083T>G (p.Val1028Gly) c.*645T>G (n.*645T>G) n.1992T>G n.2011T>G c.2786T>G (p.Val929Gly) c.2192T>G (p.Val731Gly) c.2186T>G (p.Val729Gly) c.1841T>G (p.Val614Gly) c.1442T>G (p.Val481Gly) c.3164T>G (p.Val1055Gly) n.2013T>G | dbSNP |
9 | g.133454546T= | CA1882681650 | ADAMTS13 | c.3176T= (p.Val1059=) c.3083T= (p.Val1028=) c.*645T= (n.*645T=) n.1992T= n.2011T= c.2786T= (p.Val929=) c.2192T= (p.Val731=) c.2186T= (p.Val729=) c.1841T= (p.Val614=) c.1442T= (p.Val481=) c.3164T= (p.Val1055=) n.2013T= | |
9 | g.133454547G>A | CA200943191 | ADAMTS13 | c.3177G>A (p.Val1059=) c.3084G>A (p.Val1028=) c.*646G>A (n.*646G>A) n.1993G>A n.2012G>A c.2787G>A (p.Val929=) c.2193G>A (p.Val731=) c.2187G>A (p.Val729=) c.1842G>A (p.Val614=) c.1443G>A (p.Val481=) c.3165G>A (p.Val1055=) n.2014G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454547G= | CA1882681651 | ADAMTS13 | c.3177G= (p.Val1059=) c.3084G= (p.Val1028=) c.*646G= (n.*646G=) n.1993G= n.2012G= c.2787G= (p.Val929=) c.2193G= (p.Val731=) c.2187G= (p.Val729=) c.1842G= (p.Val614=) c.1443G= (p.Val481=) c.3165G= (p.Val1055=) n.2014G= | |
9 | g.133454547G>T | CA2692361640 | ADAMTS13 | c.3177G>T (p.Val1059=) c.3084G>T (p.Val1028=) c.*646G>T (n.*646G>T) n.1993G>T n.2012G>T c.2787G>T (p.Val929=) c.2193G>T (p.Val731=) c.2187G>T (p.Val729=) c.1842G>T (p.Val614=) c.1443G>T (p.Val481=) c.3165G>T (p.Val1055=) n.2014G>T | gnomAD v4 |
9 | g.133454548C>A | CA200943192 | ADAMTS13 | c.3178C>A (p.Arg1060=) c.3085C>A (p.Arg1029=) c.*647C>A (n.*647C>A) n.1994C>A n.2013C>A c.2788C>A (p.Arg930=) c.2194C>A (p.Arg732=) c.2188C>A (p.Arg730=) c.1843C>A (p.Arg615=) c.1444C>A (p.Arg482=) c.3166C>A (p.Arg1056=) n.2015C>A | dbSNP gnomAD v4 |
9 | g.133454548C= | CA1882681652 | ADAMTS13 | c.3178C= (p.Arg1060=) c.3085C= (p.Arg1029=) c.*647C= (n.*647C=) n.1994C= n.2013C= c.2788C= (p.Arg930=) c.2194C= (p.Arg732=) c.2188C= (p.Arg730=) c.1843C= (p.Arg615=) c.1444C= (p.Arg482=) c.3166C= (p.Arg1056=) n.2015C= | |
9 | g.133454548C>G | CA375410687 | ADAMTS13 | c.3178C>G (p.Arg1060Gly) c.3085C>G (p.Arg1029Gly) c.*647C>G (n.*647C>G) n.1994C>G n.2013C>G c.2788C>G (p.Arg930Gly) c.2194C>G (p.Arg732Gly) c.2188C>G (p.Arg730Gly) c.1843C>G (p.Arg615Gly) c.1444C>G (p.Arg482Gly) c.3166C>G (p.Arg1056Gly) n.2015C>G | |
9 | g.133454548C>T | CA220022 | ADAMTS13 | c.3178C>T (p.Arg1060Trp) c.3085C>T (p.Arg1029Trp) c.*647C>T (n.*647C>T) n.1994C>T n.2013C>T c.2788C>T (p.Arg930Trp) c.2194C>T (p.Arg732Trp) c.2188C>T (p.Arg730Trp) c.1843C>T (p.Arg615Trp) c.1444C>T (p.Arg482Trp) c.3166C>T (p.Arg1056Trp) n.2015C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454549G>A | CA200943195 | ADAMTS13 | c.3179G>A (p.Arg1060Gln) c.3086G>A (p.Arg1029Gln) c.*648G>A (n.*648G>A) n.1995G>A n.2014G>A c.2789G>A (p.Arg930Gln) c.2195G>A (p.Arg732Gln) c.2189G>A (p.Arg730Gln) c.1844G>A (p.Arg615Gln) c.1445G>A (p.Arg482Gln) c.3167G>A (p.Arg1056Gln) n.2016G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.133454549G>C | CA375410688 | ADAMTS13 | c.3179G>C (p.Arg1060Pro) c.3086G>C (p.Arg1029Pro) c.*648G>C (n.*648G>C) n.1995G>C n.2014G>C c.2789G>C (p.Arg930Pro) c.2195G>C (p.Arg732Pro) c.2189G>C (p.Arg730Pro) c.1844G>C (p.Arg615Pro) c.1445G>C (p.Arg482Pro) c.3167G>C (p.Arg1056Pro) n.2016G>C | gnomAD v4 |
9 | g.133454549G= | CA1882681653 | ADAMTS13 | c.3179G= (p.Arg1060=) c.3086G= (p.Arg1029=) c.*648G= (n.*648G=) n.1995G= n.2014G= c.2789G= (p.Arg930=) c.2195G= (p.Arg732=) c.2189G= (p.Arg730=) c.1844G= (p.Arg615=) c.1445G= (p.Arg482=) c.3167G= (p.Arg1056=) n.2016G= | |
9 | g.133454549G>T | CA375410689 | ADAMTS13 | c.3179G>T (p.Arg1060Leu) c.3086G>T (p.Arg1029Leu) c.*648G>T (n.*648G>T) n.1995G>T n.2014G>T c.2789G>T (p.Arg930Leu) c.2195G>T (p.Arg732Leu) c.2189G>T (p.Arg730Leu) c.1844G>T (p.Arg615Leu) c.1445G>T (p.Arg482Leu) c.3167G>T (p.Arg1056Leu) n.2016G>T | gnomAD v4 |
9 | g.133454550G>T | CA2692361657 | ADAMTS13 | c.3180G>T (p.Arg1060=) c.3087G>T (p.Arg1029=) c.*649G>T (n.*649G>T) n.1996G>T n.2015G>T c.2790G>T (p.Arg930=) c.2196G>T (p.Arg732=) c.2190G>T (p.Arg730=) c.1845G>T (p.Arg615=) c.1446G>T (p.Arg482=) c.3168G>T (p.Arg1056=) n.2017G>T | gnomAD v4 |
9 | g.133454550_133454552delinsGCC | CA1882681654 | ADAMTS13 | c.3180_3182delinsGCC (p.Arg1060=) c.3087_3089delinsGCC (p.Arg1029=) c.*649_*651delinsGCC (n.*649_*651delinsGCC) n.1996_1998delinsGCC n.2015_2017delinsGCC c.2790_2792delinsGCC (p.Arg930=) c.2196_2198delinsGCC (p.Arg732=) c.2190_2192delinsGCC (p.Arg730=) c.1845_1847delinsGCC (p.Arg615=) c.1446_1448delinsGCC (p.Arg482=) c.3168_3170delinsGCC (p.Arg1056=) n.2017_2019delinsGCC | |
9 | g.133454551C>A | CA375410690 | ADAMTS13 | c.3181C>A (p.Pro1061Thr) c.3088C>A (p.Pro1030Thr) c.*650C>A (n.*650C>A) n.1997C>A n.2016C>A c.2791C>A (p.Pro931Thr) c.2197C>A (p.Pro733Thr) c.2191C>A (p.Pro731Thr) c.1846C>A (p.Pro616Thr) c.1447C>A (p.Pro483Thr) c.3169C>A (p.Pro1057Thr) n.2018C>A | gnomAD v4 |
9 | g.133454551C>G | CA375410691 | ADAMTS13 | c.3181C>G (p.Pro1061Ala) c.3088C>G (p.Pro1030Ala) c.*650C>G (n.*650C>G) n.1997C>G n.2016C>G c.2791C>G (p.Pro931Ala) c.2197C>G (p.Pro733Ala) c.2191C>G (p.Pro731Ala) c.1846C>G (p.Pro616Ala) c.1447C>G (p.Pro483Ala) c.3169C>G (p.Pro1057Ala) n.2018C>G | |
9 | g.133454551C>T | CA375410693 | ADAMTS13 | c.3181C>T (p.Pro1061Ser) c.3088C>T (p.Pro1030Ser) c.*650C>T (n.*650C>T) n.1997C>T n.2016C>T c.2791C>T (p.Pro931Ser) c.2197C>T (p.Pro733Ser) c.2191C>T (p.Pro731Ser) c.1846C>T (p.Pro616Ser) c.1447C>T (p.Pro483Ser) c.3169C>T (p.Pro1057Ser) n.2018C>T | gnomAD v4 |
9 | g.133454552_133454553del | CA200943199 | ADAMTS13 | c.3182_3183del (p.Pro1061ArgfsTer?) c.3089_3090del (p.Pro1030ArgfsTer?) c.*651_*652del (n.*651_*652del) n.1998_1999del n.2017_2018del c.2792_2793del (p.Pro931ArgfsTer?) c.2198_2199del (p.Pro733ArgfsTer?) c.2192_2193del (p.Pro731ArgfsTer?) c.1847_1848del (p.Pro616ArgfsTer?) c.1448_1449del (p.Pro483ArgfsTer?) c.3170_3171del (p.Pro1057ArgfsTer?) n.2019_2020del | dbSNP gnomAD v4 |
9 | g.133454552C>A | CA375410694 | ADAMTS13 | c.3182C>A (p.Pro1061His) c.3089C>A (p.Pro1030His) c.*651C>A (n.*651C>A) n.1998C>A n.2017C>A c.2792C>A (p.Pro931His) c.2198C>A (p.Pro733His) c.2192C>A (p.Pro731His) c.1847C>A (p.Pro616His) c.1448C>A (p.Pro483His) c.3170C>A (p.Pro1057His) n.2019C>A | |
9 | g.133454552C>G | CA375410695 | ADAMTS13 | c.3182C>G (p.Pro1061Arg) c.3089C>G (p.Pro1030Arg) c.*651C>G (n.*651C>G) n.1998C>G n.2017C>G c.2792C>G (p.Pro931Arg) c.2198C>G (p.Pro733Arg) c.2192C>G (p.Pro731Arg) c.1847C>G (p.Pro616Arg) c.1448C>G (p.Pro483Arg) c.3170C>G (p.Pro1057Arg) n.2019C>G | |
9 | g.133454552C>T | CA375410696 | ADAMTS13 | c.3182C>T (p.Pro1061Leu) c.3089C>T (p.Pro1030Leu) c.*651C>T (n.*651C>T) n.1998C>T n.2017C>T c.2792C>T (p.Pro931Leu) c.2198C>T (p.Pro733Leu) c.2192C>T (p.Pro731Leu) c.1847C>T (p.Pro616Leu) c.1448C>T (p.Pro483Leu) c.3170C>T (p.Pro1057Leu) n.2019C>T | COSMIC |
9 | g.133454553C>A | CA2692361666 | ADAMTS13 | c.3183C>A (p.Pro1061=) c.3090C>A (p.Pro1030=) c.*652C>A (n.*652C>A) n.1999C>A n.2018C>A c.2793C>A (p.Pro931=) c.2199C>A (p.Pro733=) c.2193C>A (p.Pro731=) c.1848C>A (p.Pro616=) c.1449C>A (p.Pro483=) c.3171C>A (p.Pro1057=) n.2020C>A | dbSNP gnomAD v4 |
9 | g.133454553C= | CA1882681655 | ADAMTS13 | c.3183C= (p.Pro1061=) c.3090C= (p.Pro1030=) c.*652C= (n.*652C=) n.1999C= n.2018C= c.2793C= (p.Pro931=) c.2199C= (p.Pro733=) c.2193C= (p.Pro731=) c.1848C= (p.Pro616=) c.1449C= (p.Pro483=) c.3171C= (p.Pro1057=) n.2020C= | |
9 | g.133454553C>T | CA200943203 | ADAMTS13 | c.3183C>T (p.Pro1061=) c.3090C>T (p.Pro1030=) c.*652C>T (n.*652C>T) n.1999C>T n.2018C>T c.2793C>T (p.Pro931=) c.2199C>T (p.Pro733=) c.2193C>T (p.Pro731=) c.1848C>T (p.Pro616=) c.1449C>T (p.Pro483=) c.3171C>T (p.Pro1057=) n.2020C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.133454554G>A | CA200943212 | ADAMTS13 | c.3184G>A (p.Glu1062Lys) c.3091G>A (p.Glu1031Lys) c.*653G>A (n.*653G>A) n.2000G>A n.2019G>A c.2794G>A (p.Glu932Lys) c.2200G>A (p.Glu734Lys) c.2194G>A (p.Glu732Lys) c.1849G>A (p.Glu617Lys) c.1450G>A (p.Glu484Lys) c.3172G>A (p.Glu1058Lys) n.2021G>A | dbSNP gnomAD v4 |
9 | g.133454554G>C | CA375410698 | ADAMTS13 | c.3184G>C (p.Glu1062Gln) c.3091G>C (p.Glu1031Gln) c.*653G>C (n.*653G>C) n.2000G>C n.2019G>C c.2794G>C (p.Glu932Gln) c.2200G>C (p.Glu734Gln) c.2194G>C (p.Glu732Gln) c.1849G>C (p.Glu617Gln) c.1450G>C (p.Glu484Gln) c.3172G>C (p.Glu1058Gln) n.2021G>C | dbSNP gnomAD v4 |
9 | g.133454554G= | CA1882681656 | ADAMTS13 | c.3184G= (p.Glu1062=) c.3091G= (p.Glu1031=) c.*653G= (n.*653G=) n.2000G= n.2019G= c.2794G= (p.Glu932=) c.2200G= (p.Glu734=) c.2194G= (p.Glu732=) c.1849G= (p.Glu617=) c.1450G= (p.Glu484=) c.3172G= (p.Glu1058=) n.2021G= | |
9 | g.133454554G>T | CA375410697 | ADAMTS13 | c.3184G>T (p.Glu1062Ter) c.3091G>T (p.Glu1031Ter) c.*653G>T (n.*653G>T) n.2000G>T n.2019G>T c.2794G>T (p.Glu932Ter) c.2200G>T (p.Glu734Ter) c.2194G>T (p.Glu732Ter) c.1849G>T (p.Glu617Ter) c.1450G>T (p.Glu484Ter) c.3172G>T (p.Glu1058Ter) n.2021G>T | gnomAD v4 |
9 | g.133454555A>C | CA375410699 | ADAMTS13 | c.3185A>C (p.Glu1062Ala) c.3092A>C (p.Glu1031Ala) c.*654A>C (n.*654A>C) n.2001A>C n.2020A>C c.2795A>C (p.Glu932Ala) c.2201A>C (p.Glu734Ala) c.2195A>C (p.Glu732Ala) c.1850A>C (p.Glu617Ala) c.1451A>C (p.Glu484Ala) c.3173A>C (p.Glu1058Ala) n.2022A>C | |
9 | g.133454555A>G | CA375410700 | ADAMTS13 | c.3185A>G (p.Glu1062Gly) c.3092A>G (p.Glu1031Gly) c.*654A>G (n.*654A>G) n.2001A>G n.2020A>G c.2795A>G (p.Glu932Gly) c.2201A>G (p.Glu734Gly) c.2195A>G (p.Glu732Gly) c.1850A>G (p.Glu617Gly) c.1451A>G (p.Glu484Gly) c.3173A>G (p.Glu1058Gly) n.2022A>G | |
9 | g.133454555A>T | CA375410701 | ADAMTS13 | c.3185A>T (p.Glu1062Val) c.3092A>T (p.Glu1031Val) c.*654A>T (n.*654A>T) n.2001A>T n.2020A>T c.2795A>T (p.Glu932Val) c.2201A>T (p.Glu734Val) c.2195A>T (p.Glu732Val) c.1850A>T (p.Glu617Val) c.1451A>T (p.Glu484Val) c.3173A>T (p.Glu1058Val) n.2022A>T | |
9 | g.133454556G>A | CA2579547171 | ADAMTS13 | c.3186G>A (p.Glu1062=) c.3093G>A (p.Glu1031=) c.*655G>A (n.*655G>A) n.2002G>A n.2021G>A c.2796G>A (p.Glu932=) c.2202G>A (p.Glu734=) c.2196G>A (p.Glu732=) c.1851G>A (p.Glu617=) c.1452G>A (p.Glu484=) c.3174G>A (p.Glu1058=) n.2023G>A | |
9 | g.133454556G>C | CA375410702 | ADAMTS13 | c.3186G>C (p.Glu1062Asp) c.3093G>C (p.Glu1031Asp) c.*655G>C (n.*655G>C) n.2002G>C n.2021G>C c.2796G>C (p.Glu932Asp) c.2202G>C (p.Glu734Asp) c.2196G>C (p.Glu732Asp) c.1851G>C (p.Glu617Asp) c.1452G>C (p.Glu484Asp) c.3174G>C (p.Glu1058Asp) n.2023G>C | dbSNP gnomAD v4 |
9 | g.133454556G= | CA1882681657 | ADAMTS13 | c.3186G= (p.Glu1062=) c.3093G= (p.Glu1031=) c.*655G= (n.*655G=) n.2002G= n.2021G= c.2796G= (p.Glu932=) c.2202G= (p.Glu734=) c.2196G= (p.Glu732=) c.1851G= (p.Glu617=) c.1452G= (p.Glu484=) c.3174G= (p.Glu1058=) n.2023G= | |
9 | g.133454556G>T | CA375410703 | ADAMTS13 | c.3186G>T (p.Glu1062Asp) c.3093G>T (p.Glu1031Asp) c.*655G>T (n.*655G>T) n.2002G>T n.2021G>T c.2796G>T (p.Glu932Asp) c.2202G>T (p.Glu734Asp) c.2196G>T (p.Glu732Asp) c.1851G>T (p.Glu617Asp) c.1452G>T (p.Glu484Asp) c.3174G>T (p.Glu1058Asp) n.2023G>T | |
9 | g.133454557G>A | CA375410704 | ADAMTS13 | c.3187G>A (p.Ala1063Thr) c.3094G>A (p.Ala1032Thr) c.*656G>A (n.*656G>A) n.2003G>A n.2022G>A c.2797G>A (p.Ala933Thr) c.2203G>A (p.Ala735Thr) c.2197G>A (p.Ala733Thr) c.1852G>A (p.Ala618Thr) c.1453G>A (p.Ala485Thr) c.3175G>A (p.Ala1059Thr) n.2024G>A | gnomAD v4 |
9 | g.133454557G>C | CA375410705 | ADAMTS13 | c.3187G>C (p.Ala1063Pro) c.3094G>C (p.Ala1032Pro) c.*656G>C (n.*656G>C) n.2003G>C n.2022G>C c.2797G>C (p.Ala933Pro) c.2203G>C (p.Ala735Pro) c.2197G>C (p.Ala733Pro) c.1852G>C (p.Ala618Pro) c.1453G>C (p.Ala485Pro) c.3175G>C (p.Ala1059Pro) n.2024G>C | |
9 | g.133454557G>T | CA375410706 | ADAMTS13 | c.3187G>T (p.Ala1063Ser) c.3094G>T (p.Ala1032Ser) c.*656G>T (n.*656G>T) n.2003G>T n.2022G>T c.2797G>T (p.Ala933Ser) c.2203G>T (p.Ala735Ser) c.2197G>T (p.Ala733Ser) c.1852G>T (p.Ala618Ser) c.1453G>T (p.Ala485Ser) c.3175G>T (p.Ala1059Ser) n.2024G>T | gnomAD v4 |
9 | g.133454558C>A | CA375410707 | ADAMTS13 | c.3188C>A (p.Ala1063Asp) c.3095C>A (p.Ala1032Asp) c.*657C>A (n.*657C>A) n.2004C>A n.2023C>A c.2798C>A (p.Ala933Asp) c.2204C>A (p.Ala735Asp) c.2198C>A (p.Ala733Asp) c.1853C>A (p.Ala618Asp) c.1454C>A (p.Ala485Asp) c.3176C>A (p.Ala1059Asp) n.2025C>A | |
9 | g.133454558C>G | CA375410708 | ADAMTS13 | c.3188C>G (p.Ala1063Gly) c.3095C>G (p.Ala1032Gly) c.*657C>G (n.*657C>G) n.2004C>G n.2023C>G c.2798C>G (p.Ala933Gly) c.2204C>G (p.Ala735Gly) c.2198C>G (p.Ala733Gly) c.1853C>G (p.Ala618Gly) c.1454C>G (p.Ala485Gly) c.3176C>G (p.Ala1059Gly) n.2025C>G | |
9 | g.133454558C>T | CA375410709 | ADAMTS13 | c.3188C>T (p.Ala1063Val) c.3095C>T (p.Ala1032Val) c.*657C>T (n.*657C>T) n.2004C>T n.2023C>T c.2798C>T (p.Ala933Val) c.2204C>T (p.Ala735Val) c.2198C>T (p.Ala733Val) c.1853C>T (p.Ala618Val) c.1454C>T (p.Ala485Val) c.3176C>T (p.Ala1059Val) n.2025C>T | |
9 | g.133454558_133454560delinsCCA | CA1882681658 | ADAMTS13 | c.3188_3190delinsCCA (p.Ala1063=) c.3095_3097delinsCCA (p.Ala1032=) c.*657_*659delinsCCA (n.*657_*659delinsCCA) n.2004_2006delinsCCA n.2023_2025delinsCCA c.2798_2800delinsCCA (p.Ala933=) c.2204_2206delinsCCA (p.Ala735=) c.2198_2200delinsCCA (p.Ala733=) c.1853_1855delinsCCA (p.Ala618=) c.1454_1456delinsCCA (p.Ala485=) c.3176_3178delinsCCA (p.Ala1059=) n.2025_2027delinsCCA | |
9 | g.133454559C>T | CA2579547172 | ADAMTS13 | c.3189C>T (p.Ala1063=) c.3096C>T (p.Ala1032=) c.*658C>T (n.*658C>T) n.2005C>T n.2024C>T c.2799C>T (p.Ala933=) c.2205C>T (p.Ala735=) c.2199C>T (p.Ala733=) c.1854C>T (p.Ala618=) c.1455C>T (p.Ala485=) c.3177C>T (p.Ala1059=) n.2026C>T | gnomAD v4 |
9 | g.133454559_133454560del | CA200943217 | ADAMTS13 | c.3189_3190del (p.Ser1064CysfsTer?) c.3096_3097del (p.Ser1033CysfsTer?) c.*658_*659del (n.*658_*659del) n.2005_2006del n.2024_2025del c.2799_2800del (p.Ser934CysfsTer?) c.2205_2206del (p.Ser736CysfsTer?) c.2199_2200del (p.Ser734CysfsTer?) c.1854_1855del (p.Ser619CysfsTer?) c.1455_1456del (p.Ser486CysfsTer?) c.3177_3178del (p.Ser1060CysfsTer?) n.2026_2027del | dbSNP gnomAD v4 |
9 | g.133454560A>C | CA375410711 | ADAMTS13 | c.3190A>C (p.Ser1064Arg) c.3097A>C (p.Ser1033Arg) c.*659A>C (n.*659A>C) n.2006A>C n.2025A>C c.2800A>C (p.Ser934Arg) c.2206A>C (p.Ser736Arg) c.2200A>C (p.Ser734Arg) c.1855A>C (p.Ser619Arg) c.1456A>C (p.Ser486Arg) c.3178A>C (p.Ser1060Arg) n.2027A>C | |
9 | g.133454560A>G | CA375410712 | ADAMTS13 | c.3190A>G (p.Ser1064Gly) c.3097A>G (p.Ser1033Gly) c.*659A>G (n.*659A>G) n.2006A>G n.2025A>G c.2800A>G (p.Ser934Gly) c.2206A>G (p.Ser736Gly) c.2200A>G (p.Ser734Gly) c.1855A>G (p.Ser619Gly) c.1456A>G (p.Ser486Gly) c.3178A>G (p.Ser1060Gly) n.2027A>G | |
9 | g.133454560A>T | CA375410710 | ADAMTS13 | c.3190A>T (p.Ser1064Cys) c.3097A>T (p.Ser1033Cys) c.*659A>T (n.*659A>T) n.2006A>T n.2025A>T c.2800A>T (p.Ser934Cys) c.2206A>T (p.Ser736Cys) c.2200A>T (p.Ser734Cys) c.1855A>T (p.Ser619Cys) c.1456A>T (p.Ser486Cys) c.3178A>T (p.Ser1060Cys) n.2027A>T | |
9 | g.133454561G>A | CA375410713 | ADAMTS13 | c.3191G>A (p.Ser1064Asn) c.3098G>A (p.Ser1033Asn) c.*660G>A (n.*660G>A) n.2007G>A n.2026G>A c.2801G>A (p.Ser934Asn) c.2207G>A (p.Ser736Asn) c.2201G>A (p.Ser734Asn) c.1856G>A (p.Ser619Asn) c.1457G>A (p.Ser486Asn) c.3179G>A (p.Ser1060Asn) n.2028G>A | gnomAD v4 COSMIC |
9 | g.133454561G>C | CA375410714 | ADAMTS13 | c.3191G>C (p.Ser1064Thr) c.3098G>C (p.Ser1033Thr) c.*660G>C (n.*660G>C) n.2007G>C n.2026G>C c.2801G>C (p.Ser934Thr) c.2207G>C (p.Ser736Thr) c.2201G>C (p.Ser734Thr) c.1856G>C (p.Ser619Thr) c.1457G>C (p.Ser486Thr) c.3179G>C (p.Ser1060Thr) n.2028G>C | |
9 | g.133454561G>T | CA375410715 | ADAMTS13 | c.3191G>T (p.Ser1064Ile) c.3098G>T (p.Ser1033Ile) c.*660G>T (n.*660G>T) n.2007G>T n.2026G>T c.2801G>T (p.Ser934Ile) c.2207G>T (p.Ser736Ile) c.2201G>T (p.Ser734Ile) c.1856G>T (p.Ser619Ile) c.1457G>T (p.Ser486Ile) c.3179G>T (p.Ser1060Ile) n.2028G>T | gnomAD v4 |
9 | g.133454562T>A | CA375410716 | ADAMTS13 | c.3192T>A (p.Ser1064Arg) c.3099T>A (p.Ser1033Arg) c.*661T>A (n.*661T>A) n.2008T>A n.2027T>A c.2802T>A (p.Ser934Arg) c.2208T>A (p.Ser736Arg) c.2202T>A (p.Ser734Arg) c.1857T>A (p.Ser619Arg) c.1458T>A (p.Ser486Arg) c.3180T>A (p.Ser1060Arg) n.2029T>A | |
9 | g.133454562T>C | CA200943222 | ADAMTS13 | c.3192T>C (p.Ser1064=) c.3099T>C (p.Ser1033=) c.*661T>C (n.*661T>C) n.2008T>C n.2027T>C c.2802T>C (p.Ser934=) c.2208T>C (p.Ser736=) c.2202T>C (p.Ser734=) c.1857T>C (p.Ser619=) c.1458T>C (p.Ser486=) c.3180T>C (p.Ser1060=) n.2029T>C | dbSNP |
9 | g.133454562T>G | CA375410717 | ADAMTS13 | c.3192T>G (p.Ser1064Arg) c.3099T>G (p.Ser1033Arg) c.*661T>G (n.*661T>G) n.2008T>G n.2027T>G c.2802T>G (p.Ser934Arg) c.2208T>G (p.Ser736Arg) c.2202T>G (p.Ser734Arg) c.1857T>G (p.Ser619Arg) c.1458T>G (p.Ser486Arg) c.3180T>G (p.Ser1060Arg) n.2029T>G | |
9 | g.133454562T= | CA1882681659 | ADAMTS13 | c.3192T= (p.Ser1064=) c.3099T= (p.Ser1033=) c.*661T= (n.*661T=) n.2008T= n.2027T= c.2802T= (p.Ser934=) c.2208T= (p.Ser736=) c.2202T= (p.Ser734=) c.1857T= (p.Ser619=) c.1458T= (p.Ser486=) c.3180T= (p.Ser1060=) n.2029T= | |
9 | g.133454563G>A | CA375410720 | ADAMTS13 | c.3193G>A (p.Val1065Ile) c.3100G>A (p.Val1034Ile) c.*662G>A (n.*662G>A) n.2009G>A n.2028G>A c.2803G>A (p.Val935Ile) c.2209G>A (p.Val737Ile) c.2203G>A (p.Val735Ile) c.1858G>A (p.Val620Ile) c.1459G>A (p.Val487Ile) c.3181G>A (p.Val1061Ile) n.2030G>A | |
9 | g.133454563G>C | CA375410719 | ADAMTS13 | c.3193G>C (p.Val1065Leu) c.3100G>C (p.Val1034Leu) c.*662G>C (n.*662G>C) n.2009G>C n.2028G>C c.2803G>C (p.Val935Leu) c.2209G>C (p.Val737Leu) c.2203G>C (p.Val735Leu) c.1858G>C (p.Val620Leu) c.1459G>C (p.Val487Leu) c.3181G>C (p.Val1061Leu) n.2030G>C | |
9 | g.133454563G= | CA1882681660 | ADAMTS13 | c.3193G= (p.Val1065=) c.3100G= (p.Val1034=) c.*662G= (n.*662G=) n.2009G= n.2028G= c.2803G= (p.Val935=) c.2209G= (p.Val737=) c.2203G= (p.Val735=) c.1858G= (p.Val620=) c.1459G= (p.Val487=) c.3181G= (p.Val1061=) n.2030G= | |
9 | g.133454563G>T | CA375410718 | ADAMTS13 | c.3193G>T (p.Val1065Phe) c.3100G>T (p.Val1034Phe) c.*662G>T (n.*662G>T) n.2009G>T n.2028G>T c.2803G>T (p.Val935Phe) c.2209G>T (p.Val737Phe) c.2203G>T (p.Val735Phe) c.1858G>T (p.Val620Phe) c.1459G>T (p.Val487Phe) c.3181G>T (p.Val1061Phe) n.2030G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454564T>A | CA375410721 | ADAMTS13 | c.3194T>A (p.Val1065Asp) c.3101T>A (p.Val1034Asp) c.*663T>A (n.*663T>A) n.2010T>A n.2029T>A c.2804T>A (p.Val935Asp) c.2210T>A (p.Val737Asp) c.2204T>A (p.Val735Asp) c.1859T>A (p.Val620Asp) c.1460T>A (p.Val487Asp) c.3182T>A (p.Val1061Asp) n.2031T>A | gnomAD v4 |
9 | g.133454564T>C | CA375410722 | ADAMTS13 | c.3194T>C (p.Val1065Ala) c.3101T>C (p.Val1034Ala) c.*663T>C (n.*663T>C) n.2010T>C n.2029T>C c.2804T>C (p.Val935Ala) c.2210T>C (p.Val737Ala) c.2204T>C (p.Val735Ala) c.1859T>C (p.Val620Ala) c.1460T>C (p.Val487Ala) c.3182T>C (p.Val1061Ala) n.2031T>C | |
9 | g.133454564T>G | CA375410723 | ADAMTS13 | c.3194T>G (p.Val1065Gly) c.3101T>G (p.Val1034Gly) c.*663T>G (n.*663T>G) n.2010T>G n.2029T>G c.2804T>G (p.Val935Gly) c.2210T>G (p.Val737Gly) c.2204T>G (p.Val735Gly) c.1859T>G (p.Val620Gly) c.1460T>G (p.Val487Gly) c.3182T>G (p.Val1061Gly) n.2031T>G | |
9 | g.133454565C>A | CA2692361691 | ADAMTS13 | c.3195C>A (p.Val1065=) c.3102C>A (p.Val1034=) c.*664C>A (n.*664C>A) n.2011C>A n.2030C>A c.2805C>A (p.Val935=) c.2211C>A (p.Val737=) c.2205C>A (p.Val735=) c.1860C>A (p.Val620=) c.1461C>A (p.Val487=) c.3183C>A (p.Val1061=) n.2032C>A | gnomAD v4 |
9 | g.133454565C= | CA1882681661 | ADAMTS13 | c.3195C= (p.Val1065=) c.3102C= (p.Val1034=) c.*664C= (n.*664C=) n.2011C= n.2030C= c.2805C= (p.Val935=) c.2211C= (p.Val737=) c.2205C= (p.Val735=) c.1860C= (p.Val620=) c.1461C= (p.Val487=) c.3183C= (p.Val1061=) n.2032C= | |
9 | g.133454565C>G | CA860742282 | ADAMTS13 | c.3195C>G (p.Val1065=) c.3102C>G (p.Val1034=) c.*664C>G (n.*664C>G) n.2011C>G n.2030C>G c.2805C>G (p.Val935=) c.2211C>G (p.Val737=) c.2205C>G (p.Val735=) c.1860C>G (p.Val620=) c.1461C>G (p.Val487=) c.3183C>G (p.Val1061=) n.2032C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454566C>A | CA200943231 | ADAMTS13 | c.3196C>A (p.Pro1066Thr) c.3103C>A (p.Pro1035Thr) c.*665C>A (n.*665C>A) n.2012C>A n.2031C>A c.2806C>A (p.Pro936Thr) c.2212C>A (p.Pro738Thr) c.2206C>A (p.Pro736Thr) c.1861C>A (p.Pro621Thr) c.1462C>A (p.Pro488Thr) c.3184C>A (p.Pro1062Thr) n.2033C>A | dbSNP gnomAD v4 |
9 | g.133454566C= | CA1882681662 | ADAMTS13 | c.3196C= (p.Pro1066=) c.3103C= (p.Pro1035=) c.*665C= (n.*665C=) n.2012C= n.2031C= c.2806C= (p.Pro936=) c.2212C= (p.Pro738=) c.2206C= (p.Pro736=) c.1861C= (p.Pro621=) c.1462C= (p.Pro488=) c.3184C= (p.Pro1062=) n.2033C= | |
9 | g.133454566C>G | CA375410724 | ADAMTS13 | c.3196C>G (p.Pro1066Ala) c.3103C>G (p.Pro1035Ala) c.*665C>G (n.*665C>G) n.2012C>G n.2031C>G c.2806C>G (p.Pro936Ala) c.2212C>G (p.Pro738Ala) c.2206C>G (p.Pro736Ala) c.1861C>G (p.Pro621Ala) c.1462C>G (p.Pro488Ala) c.3184C>G (p.Pro1062Ala) n.2033C>G | dbSNP gnomAD v4 |
9 | g.133454566C>T | CA375410725 | ADAMTS13 | c.3196C>T (p.Pro1066Ser) c.3103C>T (p.Pro1035Ser) c.*665C>T (n.*665C>T) n.2012C>T n.2031C>T c.2806C>T (p.Pro936Ser) c.2212C>T (p.Pro738Ser) c.2206C>T (p.Pro736Ser) c.1861C>T (p.Pro621Ser) c.1462C>T (p.Pro488Ser) c.3184C>T (p.Pro1062Ser) n.2033C>T | gnomAD v4 |
9 | g.133454567C>A | CA375410726 | ADAMTS13 | c.3197C>A (p.Pro1066His) c.3104C>A (p.Pro1035His) c.*666C>A (n.*666C>A) n.2013C>A n.2032C>A c.2807C>A (p.Pro936His) c.2213C>A (p.Pro738His) c.2207C>A (p.Pro736His) c.1862C>A (p.Pro621His) c.1463C>A (p.Pro488His) c.3185C>A (p.Pro1062His) n.2034C>A | gnomAD v4 |
9 | g.133454567C>G | CA375410728 | ADAMTS13 | c.3197C>G (p.Pro1066Arg) c.3104C>G (p.Pro1035Arg) c.*666C>G (n.*666C>G) n.2013C>G n.2032C>G c.2807C>G (p.Pro936Arg) c.2213C>G (p.Pro738Arg) c.2207C>G (p.Pro736Arg) c.1862C>G (p.Pro621Arg) c.1463C>G (p.Pro488Arg) c.3185C>G (p.Pro1062Arg) n.2034C>G | |
9 | g.133454567C>T | CA375410727 | ADAMTS13 | c.3197C>T (p.Pro1066Leu) c.3104C>T (p.Pro1035Leu) c.*666C>T (n.*666C>T) n.2013C>T n.2032C>T c.2807C>T (p.Pro936Leu) c.2213C>T (p.Pro738Leu) c.2207C>T (p.Pro736Leu) c.1862C>T (p.Pro621Leu) c.1463C>T (p.Pro488Leu) c.3185C>T (p.Pro1062Leu) n.2034C>T | |
9 | g.133454567_133454569delinsCCT | CA1882681663 | ADAMTS13 | c.3197_3199delinsCCT (p.Pro1066=) c.3104_3106delinsCCT (p.Pro1035=) c.*666_*668delinsCCT (n.*666_*668delinsCCT) n.2013_2015delinsCCT n.2032_2034delinsCCT c.2807_2809delinsCCT (p.Pro936=) c.2213_2215delinsCCT (p.Pro738=) c.2207_2209delinsCCT (p.Pro736=) c.1862_1864delinsCCT (p.Pro621=) c.1463_1465delinsCCT (p.Pro488=) c.3185_3187delinsCCT (p.Pro1062=) n.2034_2036delinsCCT | |
9 | g.133454568C>A | CA2519308851 | ADAMTS13 | c.3198C>A (p.Pro1066=) c.3105C>A (p.Pro1035=) c.*667C>A (n.*667C>A) n.2014C>A n.2033C>A c.2808C>A (p.Pro936=) c.2214C>A (p.Pro738=) c.2208C>A (p.Pro736=) c.1863C>A (p.Pro621=) c.1464C>A (p.Pro488=) c.3186C>A (p.Pro1062=) n.2035C>A | |
9 | g.133454568C>G | CA2579547173 | ADAMTS13 | c.3198C>G (p.Pro1066=) c.3105C>G (p.Pro1035=) c.*667C>G (n.*667C>G) n.2014C>G n.2033C>G c.2808C>G (p.Pro936=) c.2214C>G (p.Pro738=) c.2208C>G (p.Pro736=) c.1863C>G (p.Pro621=) c.1464C>G (p.Pro488=) c.3186C>G (p.Pro1062=) n.2035C>G | |
9 | g.133454568_133454569del | CA200943245 | ADAMTS13 | c.3198_3199del (p.Cys1067SerfsTer?) c.3105_3106del (p.Cys1036SerfsTer?) c.*667_*668del (n.*667_*668del) n.2014_2015del n.2033_2034del c.2808_2809del (p.Cys937SerfsTer?) c.2214_2215del (p.Cys739SerfsTer?) c.2208_2209del (p.Cys737SerfsTer?) c.1863_1864del (p.Cys622SerfsTer?) c.1464_1465del (p.Cys489SerfsTer?) c.3186_3187del (p.Cys1063SerfsTer?) n.2035_2036del | ClinVar dbSNP gnomAD v4 |
9 | g.133454569T>A | CA375410729 | ADAMTS13 | c.3199T>A (p.Cys1067Ser) c.3106T>A (p.Cys1036Ser) c.*668T>A (n.*668T>A) n.2015T>A n.2034T>A c.2809T>A (p.Cys937Ser) c.2215T>A (p.Cys739Ser) c.2209T>A (p.Cys737Ser) c.1864T>A (p.Cys622Ser) c.1465T>A (p.Cys489Ser) c.3187T>A (p.Cys1063Ser) n.2036T>A | |
9 | g.133454569T>C | CA375410730 | ADAMTS13 | c.3199T>C (p.Cys1067Arg) c.3106T>C (p.Cys1036Arg) c.*668T>C (n.*668T>C) n.2015T>C n.2034T>C c.2809T>C (p.Cys937Arg) c.2215T>C (p.Cys739Arg) c.2209T>C (p.Cys737Arg) c.1864T>C (p.Cys622Arg) c.1465T>C (p.Cys489Arg) c.3187T>C (p.Cys1063Arg) n.2036T>C | |
9 | g.133454569T>G | CA375410732 | ADAMTS13 | c.3199T>G (p.Cys1067Gly) c.3106T>G (p.Cys1036Gly) c.*668T>G (n.*668T>G) n.2015T>G n.2034T>G c.2809T>G (p.Cys937Gly) c.2215T>G (p.Cys739Gly) c.2209T>G (p.Cys737Gly) c.1864T>G (p.Cys622Gly) c.1465T>G (p.Cys489Gly) c.3187T>G (p.Cys1063Gly) n.2036T>G | |
9 | g.133454570G>A | CA375410734 | ADAMTS13 | c.3200G>A (p.Cys1067Tyr) c.3107G>A (p.Cys1036Tyr) c.*669G>A (n.*669G>A) n.2016G>A n.2035G>A c.2810G>A (p.Cys937Tyr) c.2216G>A (p.Cys739Tyr) c.2210G>A (p.Cys737Tyr) c.1865G>A (p.Cys622Tyr) c.1466G>A (p.Cys489Tyr) c.3188G>A (p.Cys1063Tyr) n.2037G>A | |
9 | g.133454570G>C | CA375410735 | ADAMTS13 | c.3200G>C (p.Cys1067Ser) c.3107G>C (p.Cys1036Ser) c.*669G>C (n.*669G>C) n.2016G>C n.2035G>C c.2810G>C (p.Cys937Ser) c.2216G>C (p.Cys739Ser) c.2210G>C (p.Cys737Ser) c.1865G>C (p.Cys622Ser) c.1466G>C (p.Cys489Ser) c.3188G>C (p.Cys1063Ser) n.2037G>C | gnomAD v4 |
9 | g.133454570G>T | CA375410736 | ADAMTS13 | c.3200G>T (p.Cys1067Phe) c.3107G>T (p.Cys1036Phe) c.*669G>T (n.*669G>T) n.2016G>T n.2035G>T c.2810G>T (p.Cys937Phe) c.2216G>T (p.Cys739Phe) c.2210G>T (p.Cys737Phe) c.1865G>T (p.Cys622Phe) c.1466G>T (p.Cys489Phe) c.3188G>T (p.Cys1063Phe) n.2037G>T | gnomAD v4 |
9 | g.133454571T>A | CA375410737 | ADAMTS13 | c.3201T>A (p.Cys1067Ter) c.3108T>A (p.Cys1036Ter) c.*670T>A (n.*670T>A) n.2017T>A n.2036T>A c.2811T>A (p.Cys937Ter) c.2217T>A (p.Cys739Ter) c.2211T>A (p.Cys737Ter) c.1866T>A (p.Cys622Ter) c.1467T>A (p.Cys489Ter) c.3189T>A (p.Cys1063Ter) n.2038T>A | gnomAD v4 |
9 | g.133454571T>G | CA375410739 | ADAMTS13 | c.3201T>G (p.Cys1067Trp) c.3108T>G (p.Cys1036Trp) c.*670T>G (n.*670T>G) n.2017T>G n.2036T>G c.2811T>G (p.Cys937Trp) c.2217T>G (p.Cys739Trp) c.2211T>G (p.Cys737Trp) c.1866T>G (p.Cys622Trp) c.1467T>G (p.Cys489Trp) c.3189T>G (p.Cys1063Trp) n.2038T>G | |
9 | g.133454572C>A | CA375410741 | ADAMTS13 | c.3202C>A (p.Leu1068Ile) c.3109C>A (p.Leu1037Ile) c.*671C>A (n.*671C>A) n.2018C>A n.2037C>A c.2812C>A (p.Leu938Ile) c.2218C>A (p.Leu740Ile) c.2212C>A (p.Leu738Ile) c.1867C>A (p.Leu623Ile) c.1468C>A (p.Leu490Ile) c.3190C>A (p.Leu1064Ile) n.2039C>A | |
9 | g.133454572C>G | CA375410746 | ADAMTS13 | c.3202C>G (p.Leu1068Val) c.3109C>G (p.Leu1037Val) c.*671C>G (n.*671C>G) n.2018C>G n.2037C>G c.2812C>G (p.Leu938Val) c.2218C>G (p.Leu740Val) c.2212C>G (p.Leu738Val) c.1867C>G (p.Leu623Val) c.1468C>G (p.Leu490Val) c.3190C>G (p.Leu1064Val) n.2039C>G | |
9 | g.133454572C>T | CA375410748 | ADAMTS13 | c.3202C>T (p.Leu1068Phe) c.3109C>T (p.Leu1037Phe) c.*671C>T (n.*671C>T) n.2018C>T n.2037C>T c.2812C>T (p.Leu938Phe) c.2218C>T (p.Leu740Phe) c.2212C>T (p.Leu738Phe) c.1867C>T (p.Leu623Phe) c.1468C>T (p.Leu490Phe) c.3190C>T (p.Leu1064Phe) n.2039C>T | COSMIC |
9 | g.133454573T>A | CA375410756 | ADAMTS13 | c.3203T>A (p.Leu1068His) c.3110T>A (p.Leu1037His) c.*672T>A (n.*672T>A) n.2019T>A n.2038T>A c.2813T>A (p.Leu938His) c.2219T>A (p.Leu740His) c.2213T>A (p.Leu738His) c.1868T>A (p.Leu623His) c.1469T>A (p.Leu490His) c.3191T>A (p.Leu1064His) n.2040T>A | |
9 | g.133454573T>C | CA375410754 | ADAMTS13 | c.3203T>C (p.Leu1068Pro) c.3110T>C (p.Leu1037Pro) c.*672T>C (n.*672T>C) n.2019T>C n.2038T>C c.2813T>C (p.Leu938Pro) c.2219T>C (p.Leu740Pro) c.2213T>C (p.Leu738Pro) c.1868T>C (p.Leu623Pro) c.1469T>C (p.Leu490Pro) c.3191T>C (p.Leu1064Pro) n.2040T>C | gnomAD v4 |
9 | g.133454573T>G | CA375410750 | ADAMTS13 | c.3203T>G (p.Leu1068Arg) c.3110T>G (p.Leu1037Arg) c.*672T>G (n.*672T>G) n.2019T>G n.2038T>G c.2813T>G (p.Leu938Arg) c.2219T>G (p.Leu740Arg) c.2213T>G (p.Leu738Arg) c.1868T>G (p.Leu623Arg) c.1469T>G (p.Leu490Arg) c.3191T>G (p.Leu1064Arg) n.2040T>G | |
9 | g.133454574C>A | CA2692361717 | ADAMTS13 | c.3204C>A (p.Leu1068=) c.3111C>A (p.Leu1037=) c.*673C>A (n.*673C>A) n.2020C>A n.2039C>A c.2814C>A (p.Leu938=) c.2220C>A (p.Leu740=) c.2214C>A (p.Leu738=) c.1869C>A (p.Leu623=) c.1470C>A (p.Leu490=) c.3192C>A (p.Leu1064=) n.2041C>A | gnomAD v4 |
9 | g.133454574C= | CA1882681664 | ADAMTS13 | c.3204C= (p.Leu1068=) c.3111C= (p.Leu1037=) c.*673C= (n.*673C=) n.2020C= n.2039C= c.2814C= (p.Leu938=) c.2220C= (p.Leu740=) c.2214C= (p.Leu738=) c.1869C= (p.Leu623=) c.1470C= (p.Leu490=) c.3192C= (p.Leu1064=) n.2041C= | |
9 | g.133454574C>G | CA2739265192 | ADAMTS13 | c.3204C>G (p.Leu1068=) c.3111C>G (p.Leu1037=) c.*673C>G (n.*673C>G) n.2020C>G n.2039C>G c.2814C>G (p.Leu938=) c.2220C>G (p.Leu740=) c.2214C>G (p.Leu738=) c.1869C>G (p.Leu623=) c.1470C>G (p.Leu490=) c.3192C>G (p.Leu1064=) n.2041C>G | ClinVar |
9 | g.133454574C>T | CA1129745137 | ADAMTS13 | c.3204C>T (p.Leu1068=) c.3111C>T (p.Leu1037=) c.*673C>T (n.*673C>T) n.2020C>T n.2039C>T c.2814C>T (p.Leu938=) c.2220C>T (p.Leu740=) c.2214C>T (p.Leu738=) c.1869C>T (p.Leu623=) c.1470C>T (p.Leu490=) c.3192C>T (p.Leu1064=) n.2041C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454575A>C | CA375410758 | ADAMTS13 | c.3205A>C (p.Ile1069Leu) c.3112A>C (p.Ile1038Leu) c.*674A>C (n.*674A>C) n.2021A>C n.2040A>C c.2815A>C (p.Ile939Leu) c.2221A>C (p.Ile741Leu) c.2215A>C (p.Ile739Leu) c.1870A>C (p.Ile624Leu) c.1471A>C (p.Ile491Leu) c.3193A>C (p.Ile1065Leu) n.2042A>C | |
9 | g.133454575A>G | CA375410765 | ADAMTS13 | c.3205A>G (p.Ile1069Val) c.3112A>G (p.Ile1038Val) c.*674A>G (n.*674A>G) n.2021A>G n.2040A>G c.2815A>G (p.Ile939Val) c.2221A>G (p.Ile741Val) c.2215A>G (p.Ile739Val) c.1870A>G (p.Ile624Val) c.1471A>G (p.Ile491Val) c.3193A>G (p.Ile1065Val) n.2042A>G | |
9 | g.133454575A>T | CA375410763 | ADAMTS13 | c.3205A>T (p.Ile1069Phe) c.3112A>T (p.Ile1038Phe) c.*674A>T (n.*674A>T) n.2021A>T n.2040A>T c.2815A>T (p.Ile939Phe) c.2221A>T (p.Ile741Phe) c.2215A>T (p.Ile739Phe) c.1870A>T (p.Ile624Phe) c.1471A>T (p.Ile491Phe) c.3193A>T (p.Ile1065Phe) n.2042A>T | |
9 | g.133454576T>A | CA375410767 | ADAMTS13 | c.3206T>A (p.Ile1069Asn) c.3113T>A (p.Ile1038Asn) c.*675T>A (n.*675T>A) n.2022T>A n.2041T>A c.2816T>A (p.Ile939Asn) c.2222T>A (p.Ile741Asn) c.2216T>A (p.Ile739Asn) c.1871T>A (p.Ile624Asn) c.1472T>A (p.Ile491Asn) c.3194T>A (p.Ile1065Asn) n.2043T>A | dbSNP |
9 | g.133454576T>C | CA200943262 | ADAMTS13 | c.3206T>C (p.Ile1069Thr) c.3113T>C (p.Ile1038Thr) c.*675T>C (n.*675T>C) n.2022T>C n.2041T>C c.2816T>C (p.Ile939Thr) c.2222T>C (p.Ile741Thr) c.2216T>C (p.Ile739Thr) c.1871T>C (p.Ile624Thr) c.1472T>C (p.Ile491Thr) c.3194T>C (p.Ile1065Thr) n.2043T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454576T>G | CA375410771 | ADAMTS13 | c.3206T>G (p.Ile1069Ser) c.3113T>G (p.Ile1038Ser) c.*675T>G (n.*675T>G) n.2022T>G n.2041T>G c.2816T>G (p.Ile939Ser) c.2222T>G (p.Ile741Ser) c.2216T>G (p.Ile739Ser) c.1871T>G (p.Ile624Ser) c.1472T>G (p.Ile491Ser) c.3194T>G (p.Ile1065Ser) n.2043T>G | |
9 | g.133454576T= | CA1882681665 | ADAMTS13 | c.3206T= (p.Ile1069=) c.3113T= (p.Ile1038=) c.*675T= (n.*675T=) n.2022T= n.2041T= c.2816T= (p.Ile939=) c.2222T= (p.Ile741=) c.2216T= (p.Ile739=) c.1871T= (p.Ile624=) c.1472T= (p.Ile491=) c.3194T= (p.Ile1065=) n.2043T= | |
9 | g.133454577T>G | CA375410773 | ADAMTS13 | c.3207T>G (p.Ile1069Met) c.3114T>G (p.Ile1038Met) c.*676T>G (n.*676T>G) n.2023T>G n.2042T>G c.2817T>G (p.Ile939Met) c.2223T>G (p.Ile741Met) c.2217T>G (p.Ile739Met) c.1872T>G (p.Ile624Met) c.1473T>G (p.Ile491Met) c.3195T>G (p.Ile1065Met) n.2044T>G | |
9 | g.133454578G>A | CA200943267 | ADAMTS13 | c.3208G>A (p.Ala1070Thr) c.3115G>A (p.Ala1039Thr) c.*677G>A (n.*677G>A) n.2024G>A n.2043G>A c.2818G>A (p.Ala940Thr) c.2224G>A (p.Ala742Thr) c.2218G>A (p.Ala740Thr) c.1873G>A (p.Ala625Thr) c.1474G>A (p.Ala492Thr) c.3196G>A (p.Ala1066Thr) n.2045G>A | dbSNP gnomAD v4 COSMIC |
9 | g.133454578G>C | CA375410778 | ADAMTS13 | c.3208G>C (p.Ala1070Pro) c.3115G>C (p.Ala1039Pro) c.*677G>C (n.*677G>C) n.2024G>C n.2043G>C c.2818G>C (p.Ala940Pro) c.2224G>C (p.Ala742Pro) c.2218G>C (p.Ala740Pro) c.1873G>C (p.Ala625Pro) c.1474G>C (p.Ala492Pro) c.3196G>C (p.Ala1066Pro) n.2045G>C | |
9 | g.133454578G= | CA1882681666 | ADAMTS13 | c.3208G= (p.Ala1070=) c.3115G= (p.Ala1039=) c.*677G= (n.*677G=) n.2024G= n.2043G= c.2818G= (p.Ala940=) c.2224G= (p.Ala742=) c.2218G= (p.Ala740=) c.1873G= (p.Ala625=) c.1474G= (p.Ala492=) c.3196G= (p.Ala1066=) n.2045G= | |
9 | g.133454578G>T | CA375410779 | ADAMTS13 | c.3208G>T (p.Ala1070Ser) c.3115G>T (p.Ala1039Ser) c.*677G>T (n.*677G>T) n.2024G>T n.2043G>T c.2818G>T (p.Ala940Ser) c.2224G>T (p.Ala742Ser) c.2218G>T (p.Ala740Ser) c.1873G>T (p.Ala625Ser) c.1474G>T (p.Ala492Ser) c.3196G>T (p.Ala1066Ser) n.2045G>T | gnomAD v4 |
9 | g.133454579C>A | CA375410781 | ADAMTS13 | c.3209C>A (p.Ala1070Asp) c.3116C>A (p.Ala1039Asp) c.*678C>A (n.*678C>A) n.2025C>A n.2044C>A c.2819C>A (p.Ala940Asp) c.2225C>A (p.Ala742Asp) c.2219C>A (p.Ala740Asp) c.1874C>A (p.Ala625Asp) c.1475C>A (p.Ala492Asp) c.3197C>A (p.Ala1066Asp) n.2046C>A | gnomAD v4 |
9 | g.133454579C>G | CA375410784 | ADAMTS13 | c.3209C>G (p.Ala1070Gly) c.3116C>G (p.Ala1039Gly) c.*678C>G (n.*678C>G) n.2025C>G n.2044C>G c.2819C>G (p.Ala940Gly) c.2225C>G (p.Ala742Gly) c.2219C>G (p.Ala740Gly) c.1874C>G (p.Ala625Gly) c.1475C>G (p.Ala492Gly) c.3197C>G (p.Ala1066Gly) n.2046C>G | |
9 | g.133454579C>T | CA375410782 | ADAMTS13 | c.3209C>T (p.Ala1070Val) c.3116C>T (p.Ala1039Val) c.*678C>T (n.*678C>T) n.2025C>T n.2044C>T c.2819C>T (p.Ala940Val) c.2225C>T (p.Ala742Val) c.2219C>T (p.Ala740Val) c.1874C>T (p.Ala625Val) c.1475C>T (p.Ala492Val) c.3197C>T (p.Ala1066Val) n.2046C>T | gnomAD v4 |
9 | g.133454580C>A | CA2692361731 | ADAMTS13 | c.3210C>A (p.Ala1070=) c.3117C>A (p.Ala1039=) c.*679C>A (n.*679C>A) n.2026C>A n.2045C>A c.2820C>A (p.Ala940=) c.2226C>A (p.Ala742=) c.2220C>A (p.Ala740=) c.1875C>A (p.Ala625=) c.1476C>A (p.Ala492=) c.3198C>A (p.Ala1066=) n.2047C>A | gnomAD v4 |
9 | g.133454580C= | CA1882681667 | ADAMTS13 | c.3210C= (p.Ala1070=) c.3117C= (p.Ala1039=) c.*679C= (n.*679C=) n.2026C= n.2045C= c.2820C= (p.Ala940=) c.2226C= (p.Ala742=) c.2220C= (p.Ala740=) c.1875C= (p.Ala625=) c.1476C= (p.Ala492=) c.3198C= (p.Ala1066=) n.2047C= | |
9 | g.133454580C>T | CA200943278 | ADAMTS13 | c.3210C>T (p.Ala1070=) c.3117C>T (p.Ala1039=) c.*679C>T (n.*679C>T) n.2026C>T n.2045C>T c.2820C>T (p.Ala940=) c.2226C>T (p.Ala742=) c.2220C>T (p.Ala740=) c.1875C>T (p.Ala625=) c.1476C>T (p.Ala492=) c.3198C>T (p.Ala1066=) n.2047C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454581G>A | CA200943279 | ADAMTS13 | c.3211G>A (p.Asp1071Asn) c.3118G>A (p.Asp1040Asn) c.*680G>A (n.*680G>A) n.2027G>A n.2046G>A c.2821G>A (p.Asp941Asn) c.2227G>A (p.Asp743Asn) c.2221G>A (p.Asp741Asn) c.1876G>A (p.Asp626Asn) c.1477G>A (p.Asp493Asn) c.3199G>A (p.Asp1067Asn) n.2048G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454581G>C | CA375410790 | ADAMTS13 | c.3211G>C (p.Asp1071His) c.3118G>C (p.Asp1040His) c.*680G>C (n.*680G>C) n.2027G>C n.2046G>C c.2821G>C (p.Asp941His) c.2227G>C (p.Asp743His) c.2221G>C (p.Asp741His) c.1876G>C (p.Asp626His) c.1477G>C (p.Asp493His) c.3199G>C (p.Asp1067His) n.2048G>C | |
9 | g.133454581G= | CA1882681668 | ADAMTS13 | c.3211G= (p.Asp1071=) c.3118G= (p.Asp1040=) c.*680G= (n.*680G=) n.2027G= n.2046G= c.2821G= (p.Asp941=) c.2227G= (p.Asp743=) c.2221G= (p.Asp741=) c.1876G= (p.Asp626=) c.1477G= (p.Asp493=) c.3199G= (p.Asp1067=) n.2048G= | |
9 | g.133454581G>T | CA375410792 | ADAMTS13 | c.3211G>T (p.Asp1071Tyr) c.3118G>T (p.Asp1040Tyr) c.*680G>T (n.*680G>T) n.2027G>T n.2046G>T c.2821G>T (p.Asp941Tyr) c.2227G>T (p.Asp743Tyr) c.2221G>T (p.Asp741Tyr) c.1876G>T (p.Asp626Tyr) c.1477G>T (p.Asp493Tyr) c.3199G>T (p.Asp1067Tyr) n.2048G>T | |
9 | g.133454582A= | CA1882681669 | ADAMTS13 | c.3212A= (p.Asp1071=) c.3119A= (p.Asp1040=) c.*681A= (n.*681A=) n.2028A= n.2047A= c.2822A= (p.Asp941=) c.2228A= (p.Asp743=) c.2222A= (p.Asp741=) c.1877A= (p.Asp626=) c.1478A= (p.Asp493=) c.3200A= (p.Asp1067=) n.2049A= | |
9 | g.133454582A>C | CA200943280 | ADAMTS13 | c.3212A>C (p.Asp1071Ala) c.3119A>C (p.Asp1040Ala) c.*681A>C (n.*681A>C) n.2028A>C n.2047A>C c.2822A>C (p.Asp941Ala) c.2228A>C (p.Asp743Ala) c.2222A>C (p.Asp741Ala) c.1877A>C (p.Asp626Ala) c.1478A>C (p.Asp493Ala) c.3200A>C (p.Asp1067Ala) n.2049A>C | dbSNP gnomAD v4 |
9 | g.133454582A>G | CA375410797 | ADAMTS13 | c.3212A>G (p.Asp1071Gly) c.3119A>G (p.Asp1040Gly) c.*681A>G (n.*681A>G) n.2028A>G n.2047A>G c.2822A>G (p.Asp941Gly) c.2228A>G (p.Asp743Gly) c.2222A>G (p.Asp741Gly) c.1877A>G (p.Asp626Gly) c.1478A>G (p.Asp493Gly) c.3200A>G (p.Asp1067Gly) n.2049A>G | gnomAD v4 |
9 | g.133454582A>T | CA375410795 | ADAMTS13 | c.3212A>T (p.Asp1071Val) c.3119A>T (p.Asp1040Val) c.*681A>T (n.*681A>T) n.2028A>T n.2047A>T c.2822A>T (p.Asp941Val) c.2228A>T (p.Asp743Val) c.2222A>T (p.Asp741Val) c.1877A>T (p.Asp626Val) c.1478A>T (p.Asp493Val) c.3200A>T (p.Asp1067Val) n.2049A>T | |
9 | g.133454583C>A | CA375410798 | ADAMTS13 | c.3213C>A (p.Asp1071Glu) c.3120C>A (p.Asp1040Glu) c.*682C>A (n.*682C>A) n.2029C>A n.2048C>A c.2823C>A (p.Asp941Glu) c.2229C>A (p.Asp743Glu) c.2223C>A (p.Asp741Glu) c.1878C>A (p.Asp626Glu) c.1479C>A (p.Asp493Glu) c.3201C>A (p.Asp1067Glu) n.2050C>A | |
9 | g.133454583C>G | CA375410799 | ADAMTS13 | c.3213C>G (p.Asp1071Glu) c.3120C>G (p.Asp1040Glu) c.*682C>G (n.*682C>G) n.2029C>G n.2048C>G c.2823C>G (p.Asp941Glu) c.2229C>G (p.Asp743Glu) c.2223C>G (p.Asp741Glu) c.1878C>G (p.Asp626Glu) c.1479C>G (p.Asp493Glu) c.3201C>G (p.Asp1067Glu) n.2050C>G | |
9 | g.133454584T>A | CA375410801 | ADAMTS13 | c.3214T>A (p.Cys1072Ser) c.3121T>A (p.Cys1041Ser) c.*683T>A (n.*683T>A) n.2030T>A n.2049T>A c.2824T>A (p.Cys942Ser) c.2230T>A (p.Cys744Ser) c.2224T>A (p.Cys742Ser) c.1879T>A (p.Cys627Ser) c.1480T>A (p.Cys494Ser) c.3202T>A (p.Cys1068Ser) n.2051T>A | |
9 | g.133454584T>C | CA375410803 | ADAMTS13 | c.3214T>C (p.Cys1072Arg) c.3121T>C (p.Cys1041Arg) c.*683T>C (n.*683T>C) n.2030T>C n.2049T>C c.2824T>C (p.Cys942Arg) c.2230T>C (p.Cys744Arg) c.2224T>C (p.Cys742Arg) c.1879T>C (p.Cys627Arg) c.1480T>C (p.Cys494Arg) c.3202T>C (p.Cys1068Arg) n.2051T>C | |
9 | g.133454584T>G | CA375410805 | ADAMTS13 | c.3214T>G (p.Cys1072Gly) c.3121T>G (p.Cys1041Gly) c.*683T>G (n.*683T>G) n.2030T>G n.2049T>G c.2824T>G (p.Cys942Gly) c.2230T>G (p.Cys744Gly) c.2224T>G (p.Cys742Gly) c.1879T>G (p.Cys627Gly) c.1480T>G (p.Cys494Gly) c.3202T>G (p.Cys1068Gly) n.2051T>G | |
9 | g.133454585G>A | CA375410807 | ADAMTS13 | c.3215G>A (p.Cys1072Tyr) c.3122G>A (p.Cys1041Tyr) c.*684G>A (n.*684G>A) n.2031G>A n.2050G>A c.2825G>A (p.Cys942Tyr) c.2231G>A (p.Cys744Tyr) c.2225G>A (p.Cys742Tyr) c.1880G>A (p.Cys627Tyr) c.1481G>A (p.Cys494Tyr) c.3203G>A (p.Cys1068Tyr) n.2052G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454585G>C | CA375410809 | ADAMTS13 | c.3215G>C (p.Cys1072Ser) c.3122G>C (p.Cys1041Ser) c.*684G>C (n.*684G>C) n.2031G>C n.2050G>C c.2825G>C (p.Cys942Ser) c.2231G>C (p.Cys744Ser) c.2225G>C (p.Cys742Ser) c.1880G>C (p.Cys627Ser) c.1481G>C (p.Cys494Ser) c.3203G>C (p.Cys1068Ser) n.2052G>C | |
9 | g.133454585G= | CA1882681670 | ADAMTS13 | c.3215G= (p.Cys1072=) c.3122G= (p.Cys1041=) c.*684G= (n.*684G=) n.2031G= n.2050G= c.2825G= (p.Cys942=) c.2231G= (p.Cys744=) c.2225G= (p.Cys742=) c.1880G= (p.Cys627=) c.1481G= (p.Cys494=) c.3203G= (p.Cys1068=) n.2052G= | |
9 | g.133454585G>T | CA375410811 | ADAMTS13 | c.3215G>T (p.Cys1072Phe) c.3122G>T (p.Cys1041Phe) c.*684G>T (n.*684G>T) n.2031G>T n.2050G>T c.2825G>T (p.Cys942Phe) c.2231G>T (p.Cys744Phe) c.2225G>T (p.Cys742Phe) c.1880G>T (p.Cys627Phe) c.1481G>T (p.Cys494Phe) c.3203G>T (p.Cys1068Phe) n.2052G>T | gnomAD v4 |
9 | g.133454586C>A | CA375410813 | ADAMTS13 | c.3216C>A (p.Cys1072Ter) c.3123C>A (p.Cys1041Ter) c.*685C>A (n.*685C>A) n.2032C>A n.2051C>A c.2826C>A (p.Cys942Ter) c.2232C>A (p.Cys744Ter) c.2226C>A (p.Cys742Ter) c.1881C>A (p.Cys627Ter) c.1482C>A (p.Cys494Ter) c.3204C>A (p.Cys1068Ter) n.2053C>A | |
9 | g.133454586C= | CA1882681671 | ADAMTS13 | c.3216C= (p.Cys1072=) c.3123C= (p.Cys1041=) c.*685C= (n.*685C=) n.2032C= n.2051C= c.2826C= (p.Cys942=) c.2232C= (p.Cys744=) c.2226C= (p.Cys742=) c.1881C= (p.Cys627=) c.1482C= (p.Cys494=) c.3204C= (p.Cys1068=) n.2053C= | |
9 | g.133454586C>G | CA375410815 | ADAMTS13 | c.3216C>G (p.Cys1072Trp) c.3123C>G (p.Cys1041Trp) c.*685C>G (n.*685C>G) n.2032C>G n.2051C>G c.2826C>G (p.Cys942Trp) c.2232C>G (p.Cys744Trp) c.2226C>G (p.Cys742Trp) c.1881C>G (p.Cys627Trp) c.1482C>G (p.Cys494Trp) c.3204C>G (p.Cys1068Trp) n.2053C>G | COSMIC |
9 | g.133454586C>T | CA200943283 | ADAMTS13 | c.3216C>T (p.Cys1072=) c.3123C>T (p.Cys1041=) c.*685C>T (n.*685C>T) n.2032C>T n.2051C>T c.2826C>T (p.Cys942=) c.2232C>T (p.Cys744=) c.2226C>T (p.Cys742=) c.1881C>T (p.Cys627=) c.1482C>T (p.Cys494=) c.3204C>T (p.Cys1068=) n.2053C>T | ClinVar dbSNP gnomAD v4 |
9 | g.133454587A= | CA1882681672 | ADAMTS13 | c.3217A= (p.Thr1073=) c.3124A= (p.Thr1042=) c.*686A= (n.*686A=) n.2033A= n.2052A= c.2827A= (p.Thr943=) c.2233A= (p.Thr745=) c.2227A= (p.Thr743=) c.1882A= (p.Thr628=) c.1483A= (p.Thr495=) c.3205A= (p.Thr1069=) n.2054A= | |
9 | g.133454587A>C | CA375410821 | ADAMTS13 | c.3217A>C (p.Thr1073Pro) c.3124A>C (p.Thr1042Pro) c.*686A>C (n.*686A>C) n.2033A>C n.2052A>C c.2827A>C (p.Thr943Pro) c.2233A>C (p.Thr745Pro) c.2227A>C (p.Thr743Pro) c.1882A>C (p.Thr628Pro) c.1483A>C (p.Thr495Pro) c.3205A>C (p.Thr1069Pro) n.2054A>C | dbSNP |
9 | g.133454587A>G | CA375410819 | ADAMTS13 | c.3217A>G (p.Thr1073Ala) c.3124A>G (p.Thr1042Ala) c.*686A>G (n.*686A>G) n.2033A>G n.2052A>G c.2827A>G (p.Thr943Ala) c.2233A>G (p.Thr745Ala) c.2227A>G (p.Thr743Ala) c.1882A>G (p.Thr628Ala) c.1483A>G (p.Thr495Ala) c.3205A>G (p.Thr1069Ala) n.2054A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454587A>T | CA200943294 | ADAMTS13 | c.3217A>T (p.Thr1073Ser) c.3124A>T (p.Thr1042Ser) c.*686A>T (n.*686A>T) n.2033A>T n.2052A>T c.2827A>T (p.Thr943Ser) c.2233A>T (p.Thr745Ser) c.2227A>T (p.Thr743Ser) c.1882A>T (p.Thr628Ser) c.1483A>T (p.Thr495Ser) c.3205A>T (p.Thr1069Ser) n.2054A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454590_133454593del | CA2695211625 | ADAMTS13 | c.3220_3223del (p.Tyr1074AlafsTer?) c.3127_3130del (p.Tyr1043AlafsTer?) c.*689_*692del (n.*689_*692del) n.2036_2039del n.2055_2058del c.2830_2833del (p.Tyr944AlafsTer?) c.2236_2239del (p.Tyr746AlafsTer?) c.2230_2233del (p.Tyr744AlafsTer?) c.1885_1888del (p.Tyr629AlafsTer?) c.1486_1489del (p.Tyr496AlafsTer?) c.3208_3211del (p.Tyr1070AlafsTer?) n.2057_2060del | |
9 | g.133454588C>A | CA375410824 | ADAMTS13 | c.3218C>A (p.Thr1073Asn) c.3125C>A (p.Thr1042Asn) c.*687C>A (n.*687C>A) n.2034C>A n.2053C>A c.2828C>A (p.Thr943Asn) c.2234C>A (p.Thr745Asn) c.2228C>A (p.Thr743Asn) c.1883C>A (p.Thr628Asn) c.1484C>A (p.Thr495Asn) c.3206C>A (p.Thr1069Asn) n.2055C>A | |
9 | g.133454588C= | CA1882681673 | ADAMTS13 | c.3218C= (p.Thr1073=) c.3125C= (p.Thr1042=) c.*687C= (n.*687C=) n.2034C= n.2053C= c.2828C= (p.Thr943=) c.2234C= (p.Thr745=) c.2228C= (p.Thr743=) c.1883C= (p.Thr628=) c.1484C= (p.Thr495=) c.3206C= (p.Thr1069=) n.2055C= | |
9 | g.133454588C>G | CA375410826 | ADAMTS13 | c.3218C>G (p.Thr1073Ser) c.3125C>G (p.Thr1042Ser) c.*687C>G (n.*687C>G) n.2034C>G n.2053C>G c.2828C>G (p.Thr943Ser) c.2234C>G (p.Thr745Ser) c.2228C>G (p.Thr743Ser) c.1883C>G (p.Thr628Ser) c.1484C>G (p.Thr495Ser) c.3206C>G (p.Thr1069Ser) n.2055C>G | |
9 | g.133454588C>T | CA200943317 | ADAMTS13 | c.3218C>T (p.Thr1073Ile) c.3125C>T (p.Thr1042Ile) c.*687C>T (n.*687C>T) n.2034C>T n.2053C>T c.2828C>T (p.Thr943Ile) c.2234C>T (p.Thr745Ile) c.2228C>T (p.Thr743Ile) c.1883C>T (p.Thr628Ile) c.1484C>T (p.Thr495Ile) c.3206C>T (p.Thr1069Ile) n.2055C>T | dbSNP gnomAD v4 |
9 | g.133454589C>A | CA2692361753 | ADAMTS13 | c.3219C>A (p.Thr1073=) c.3126C>A (p.Thr1042=) c.*688C>A (n.*688C>A) n.2035C>A n.2054C>A c.2829C>A (p.Thr943=) c.2235C>A (p.Thr745=) c.2229C>A (p.Thr743=) c.1884C>A (p.Thr628=) c.1485C>A (p.Thr495=) c.3207C>A (p.Thr1069=) n.2056C>A | gnomAD v4 |
9 | g.133454590T>A | CA375410829 | ADAMTS13 | c.3220T>A (p.Tyr1074Asn) c.3127T>A (p.Tyr1043Asn) c.*689T>A (n.*689T>A) n.2036T>A n.2055T>A c.2830T>A (p.Tyr944Asn) c.2236T>A (p.Tyr746Asn) c.2230T>A (p.Tyr744Asn) c.1885T>A (p.Tyr629Asn) c.1486T>A (p.Tyr496Asn) c.3208T>A (p.Tyr1070Asn) n.2057T>A | |
9 | g.133454590T>C | CA375410830 | ADAMTS13 | c.3220T>C (p.Tyr1074His) c.3127T>C (p.Tyr1043His) c.*689T>C (n.*689T>C) n.2036T>C n.2055T>C c.2830T>C (p.Tyr944His) c.2236T>C (p.Tyr746His) c.2230T>C (p.Tyr744His) c.1885T>C (p.Tyr629His) c.1486T>C (p.Tyr496His) c.3208T>C (p.Tyr1070His) n.2057T>C | |
9 | g.133454590T>G | CA375410831 | ADAMTS13 | c.3220T>G (p.Tyr1074Asp) c.3127T>G (p.Tyr1043Asp) c.*689T>G (n.*689T>G) n.2036T>G n.2055T>G c.2830T>G (p.Tyr944Asp) c.2236T>G (p.Tyr746Asp) c.2230T>G (p.Tyr744Asp) c.1885T>G (p.Tyr629Asp) c.1486T>G (p.Tyr496Asp) c.3208T>G (p.Tyr1070Asp) n.2057T>G | |
9 | g.133454591A>C | CA375410836 | ADAMTS13 | c.3221A>C (p.Tyr1074Ser) c.3128A>C (p.Tyr1043Ser) c.*690A>C (n.*690A>C) n.2037A>C n.2056A>C c.2831A>C (p.Tyr944Ser) c.2237A>C (p.Tyr746Ser) c.2231A>C (p.Tyr744Ser) c.1886A>C (p.Tyr629Ser) c.1487A>C (p.Tyr496Ser) c.3209A>C (p.Tyr1070Ser) n.2058A>C | |
9 | g.133454591A>G | CA375410832 | ADAMTS13 | c.3221A>G (p.Tyr1074Cys) c.3128A>G (p.Tyr1043Cys) c.*690A>G (n.*690A>G) n.2037A>G n.2056A>G c.2831A>G (p.Tyr944Cys) c.2237A>G (p.Tyr746Cys) c.2231A>G (p.Tyr744Cys) c.1886A>G (p.Tyr629Cys) c.1487A>G (p.Tyr496Cys) c.3209A>G (p.Tyr1070Cys) n.2058A>G | |
9 | g.133454591A>T | CA375410834 | ADAMTS13 | c.3221A>T (p.Tyr1074Phe) c.3128A>T (p.Tyr1043Phe) c.*690A>T (n.*690A>T) n.2037A>T n.2056A>T c.2831A>T (p.Tyr944Phe) c.2237A>T (p.Tyr746Phe) c.2231A>T (p.Tyr744Phe) c.1886A>T (p.Tyr629Phe) c.1487A>T (p.Tyr496Phe) c.3209A>T (p.Tyr1070Phe) n.2058A>T | |
9 | g.133454592C>A | CA375410838 | ADAMTS13 | c.3222C>A (p.Tyr1074Ter) c.3129C>A (p.Tyr1043Ter) c.*691C>A (n.*691C>A) n.2038C>A n.2057C>A c.2832C>A (p.Tyr944Ter) c.2238C>A (p.Tyr746Ter) c.2232C>A (p.Tyr744Ter) c.1887C>A (p.Tyr629Ter) c.1488C>A (p.Tyr496Ter) c.3210C>A (p.Tyr1070Ter) n.2059C>A | |
9 | g.133454592C>G | CA375410840 | ADAMTS13 | c.3222C>G (p.Tyr1074Ter) c.3129C>G (p.Tyr1043Ter) c.*691C>G (n.*691C>G) n.2038C>G n.2057C>G c.2832C>G (p.Tyr944Ter) c.2238C>G (p.Tyr746Ter) c.2232C>G (p.Tyr744Ter) c.1887C>G (p.Tyr629Ter) c.1488C>G (p.Tyr496Ter) c.3210C>G (p.Tyr1070Ter) n.2059C>G | gnomAD v4 |
9 | g.133454593C>A | CA375410843 | ADAMTS13 | c.3223C>A (p.Arg1075Ser) c.3130C>A (p.Arg1044Ser) c.*692C>A (n.*692C>A) n.2039C>A n.2058C>A c.2833C>A (p.Arg945Ser) c.2239C>A (p.Arg747Ser) c.2233C>A (p.Arg745Ser) c.1888C>A (p.Arg630Ser) c.1489C>A (p.Arg497Ser) c.3211C>A (p.Arg1071Ser) n.2060C>A | gnomAD v4 |
9 | g.133454593C= | CA1882681674 | ADAMTS13 | c.3223C= (p.Arg1075=) c.3130C= (p.Arg1044=) c.*692C= (n.*692C=) n.2039C= n.2058C= c.2833C= (p.Arg945=) c.2239C= (p.Arg747=) c.2233C= (p.Arg745=) c.1888C= (p.Arg630=) c.1489C= (p.Arg497=) c.3211C= (p.Arg1071=) n.2060C= | |
9 | g.133454593C>G | CA375410846 | ADAMTS13 | c.3223C>G (p.Arg1075Gly) c.3130C>G (p.Arg1044Gly) c.*692C>G (n.*692C>G) n.2039C>G n.2058C>G c.2833C>G (p.Arg945Gly) c.2239C>G (p.Arg747Gly) c.2233C>G (p.Arg745Gly) c.1888C>G (p.Arg630Gly) c.1489C>G (p.Arg497Gly) c.3211C>G (p.Arg1071Gly) n.2060C>G | |
9 | g.133454593C>T | CA200943322 | ADAMTS13 | c.3223C>T (p.Arg1075Cys) c.3130C>T (p.Arg1044Cys) c.*692C>T (n.*692C>T) n.2039C>T n.2058C>T c.2833C>T (p.Arg945Cys) c.2239C>T (p.Arg747Cys) c.2233C>T (p.Arg745Cys) c.1888C>T (p.Arg630Cys) c.1489C>T (p.Arg497Cys) c.3211C>T (p.Arg1071Cys) n.2060C>T | ClinVar dbSNP gnomAD v4 |
9 | g.133454594G>A | CA200943328 | ADAMTS13 | c.3224G>A (p.Arg1075His) c.3131G>A (p.Arg1044His) c.*693G>A (n.*693G>A) n.2040G>A n.2059G>A c.2834G>A (p.Arg945His) c.2240G>A (p.Arg747His) c.2234G>A (p.Arg745His) c.1889G>A (p.Arg630His) c.1490G>A (p.Arg497His) c.3212G>A (p.Arg1071His) n.2061G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454594G>C | CA375410853 | ADAMTS13 | c.3224G>C (p.Arg1075Pro) c.3131G>C (p.Arg1044Pro) c.*693G>C (n.*693G>C) n.2040G>C n.2059G>C c.2834G>C (p.Arg945Pro) c.2240G>C (p.Arg747Pro) c.2234G>C (p.Arg745Pro) c.1889G>C (p.Arg630Pro) c.1490G>C (p.Arg497Pro) c.3212G>C (p.Arg1071Pro) n.2061G>C | |
9 | g.133454594G= | CA1882681675 | ADAMTS13 | c.3224G= (p.Arg1075=) c.3131G= (p.Arg1044=) c.*693G= (n.*693G=) n.2040G= n.2059G= c.2834G= (p.Arg945=) c.2240G= (p.Arg747=) c.2234G= (p.Arg745=) c.1889G= (p.Arg630=) c.1490G= (p.Arg497=) c.3212G= (p.Arg1071=) n.2061G= | |
9 | g.133454594G>T | CA375410852 | ADAMTS13 | c.3224G>T (p.Arg1075Leu) c.3131G>T (p.Arg1044Leu) c.*693G>T (n.*693G>T) n.2040G>T n.2059G>T c.2834G>T (p.Arg945Leu) c.2240G>T (p.Arg747Leu) c.2234G>T (p.Arg745Leu) c.1889G>T (p.Arg630Leu) c.1490G>T (p.Arg497Leu) c.3212G>T (p.Arg1071Leu) n.2061G>T | gnomAD v4 |
9 | g.133454596T>A | CA375410855 | ADAMTS13 | c.3226T>A (p.Trp1076Arg) c.3133T>A (p.Trp1045Arg) c.*695T>A (n.*695T>A) n.2042T>A n.2061T>A c.2836T>A (p.Trp946Arg) c.2242T>A (p.Trp748Arg) c.2236T>A (p.Trp746Arg) c.1891T>A (p.Trp631Arg) c.1492T>A (p.Trp498Arg) c.3214T>A (p.Trp1072Arg) n.2063T>A | |
9 | g.133454596T>C | CA200943334 | ADAMTS13 | c.3226T>C (p.Trp1076Arg) c.3133T>C (p.Trp1045Arg) c.*695T>C (n.*695T>C) n.2042T>C n.2061T>C c.2836T>C (p.Trp946Arg) c.2242T>C (p.Trp748Arg) c.2236T>C (p.Trp746Arg) c.1891T>C (p.Trp631Arg) c.1492T>C (p.Trp498Arg) c.3214T>C (p.Trp1072Arg) n.2063T>C | dbSNP |
9 | g.133454596T>G | CA375410859 | ADAMTS13 | c.3226T>G (p.Trp1076Gly) c.3133T>G (p.Trp1045Gly) c.*695T>G (n.*695T>G) n.2042T>G n.2061T>G c.2836T>G (p.Trp946Gly) c.2242T>G (p.Trp748Gly) c.2236T>G (p.Trp746Gly) c.1891T>G (p.Trp631Gly) c.1492T>G (p.Trp498Gly) c.3214T>G (p.Trp1072Gly) n.2063T>G | |
9 | g.133454596T= | CA1882681676 | ADAMTS13 | c.3226T= (p.Trp1076=) c.3133T= (p.Trp1045=) c.*695T= (n.*695T=) n.2042T= n.2061T= c.2836T= (p.Trp946=) c.2242T= (p.Trp748=) c.2236T= (p.Trp746=) c.1891T= (p.Trp631=) c.1492T= (p.Trp498=) c.3214T= (p.Trp1072=) n.2063T= | |
9 | g.133454597G>A | CA375410862 | ADAMTS13 | c.3227G>A (p.Trp1076Ter) c.3134G>A (p.Trp1045Ter) c.*696G>A (n.*696G>A) n.2043G>A n.2062G>A c.2837G>A (p.Trp946Ter) c.2243G>A (p.Trp748Ter) c.2237G>A (p.Trp746Ter) c.1892G>A (p.Trp631Ter) c.1493G>A (p.Trp498Ter) c.3215G>A (p.Trp1072Ter) n.2064G>A | gnomAD v4 COSMIC |
9 | g.133454597G>C | CA375410864 | ADAMTS13 | c.3227G>C (p.Trp1076Ser) c.3134G>C (p.Trp1045Ser) c.*696G>C (n.*696G>C) n.2043G>C n.2062G>C c.2837G>C (p.Trp946Ser) c.2243G>C (p.Trp748Ser) c.2237G>C (p.Trp746Ser) c.1892G>C (p.Trp631Ser) c.1493G>C (p.Trp498Ser) c.3215G>C (p.Trp1072Ser) n.2064G>C | |
9 | g.133454597G>T | CA375410866 | ADAMTS13 | c.3227G>T (p.Trp1076Leu) c.3134G>T (p.Trp1045Leu) c.*696G>T (n.*696G>T) n.2043G>T n.2062G>T c.2837G>T (p.Trp946Leu) c.2243G>T (p.Trp748Leu) c.2237G>T (p.Trp746Leu) c.1892G>T (p.Trp631Leu) c.1493G>T (p.Trp498Leu) c.3215G>T (p.Trp1072Leu) n.2064G>T | gnomAD v4 |
9 | g.133454598G>A | CA375410868 | ADAMTS13 | c.3228G>A (p.Trp1076Ter) c.3135G>A (p.Trp1045Ter) c.*697G>A (n.*697G>A) n.2044G>A n.2063G>A c.2838G>A (p.Trp946Ter) c.2244G>A (p.Trp748Ter) c.2238G>A (p.Trp746Ter) c.1893G>A (p.Trp631Ter) c.1494G>A (p.Trp498Ter) c.3216G>A (p.Trp1072Ter) n.2065G>A | gnomAD v4 |
9 | g.133454598G>C | CA375410870 | ADAMTS13 | c.3228G>C (p.Trp1076Cys) c.3135G>C (p.Trp1045Cys) c.*697G>C (n.*697G>C) n.2044G>C n.2063G>C c.2838G>C (p.Trp946Cys) c.2244G>C (p.Trp748Cys) c.2238G>C (p.Trp746Cys) c.1893G>C (p.Trp631Cys) c.1494G>C (p.Trp498Cys) c.3216G>C (p.Trp1072Cys) n.2065G>C | gnomAD v4 |
9 | g.133454598G>T | CA375410872 | ADAMTS13 | c.3228G>T (p.Trp1076Cys) c.3135G>T (p.Trp1045Cys) c.*697G>T (n.*697G>T) n.2044G>T n.2063G>T c.2838G>T (p.Trp946Cys) c.2244G>T (p.Trp748Cys) c.2238G>T (p.Trp746Cys) c.1893G>T (p.Trp631Cys) c.1494G>T (p.Trp498Cys) c.3216G>T (p.Trp1072Cys) n.2065G>T | gnomAD v4 |
9 | g.133454599C>A | CA375410876 | ADAMTS13 | c.3229C>A (p.His1077Asn) c.3136C>A (p.His1046Asn) c.*698C>A (n.*698C>A) n.2045C>A n.2064C>A c.2839C>A (p.His947Asn) c.2245C>A (p.His749Asn) c.2239C>A (p.His747Asn) c.1894C>A (p.His632Asn) c.1495C>A (p.His499Asn) c.3217C>A (p.His1073Asn) n.2066C>A | gnomAD v4 |
9 | g.133454599C>G | CA375410878 | ADAMTS13 | c.3229C>G (p.His1077Asp) c.3136C>G (p.His1046Asp) c.*698C>G (n.*698C>G) n.2045C>G n.2064C>G c.2839C>G (p.His947Asp) c.2245C>G (p.His749Asp) c.2239C>G (p.His747Asp) c.1894C>G (p.His632Asp) c.1495C>G (p.His499Asp) c.3217C>G (p.His1073Asp) n.2066C>G | |
9 | g.133454599C>T | CA375410880 | ADAMTS13 | c.3229C>T (p.His1077Tyr) c.3136C>T (p.His1046Tyr) c.*698C>T (n.*698C>T) n.2045C>T n.2064C>T c.2839C>T (p.His947Tyr) c.2245C>T (p.His749Tyr) c.2239C>T (p.His747Tyr) c.1894C>T (p.His632Tyr) c.1495C>T (p.His499Tyr) c.3217C>T (p.His1073Tyr) n.2066C>T | gnomAD v4 |
9 | g.133454600A= | CA1882681677 | ADAMTS13 | c.3230A= (p.His1077=) c.3137A= (p.His1046=) c.*699A= (n.*699A=) n.2046A= n.2065A= c.2840A= (p.His947=) c.2246A= (p.His749=) c.2240A= (p.His747=) c.1895A= (p.His632=) c.1496A= (p.His499=) c.3218A= (p.His1073=) n.2067A= | |
9 | g.133454600A>C | CA375410884 | ADAMTS13 | c.3230A>C (p.His1077Pro) c.3137A>C (p.His1046Pro) c.*699A>C (n.*699A>C) n.2046A>C n.2065A>C c.2840A>C (p.His947Pro) c.2246A>C (p.His749Pro) c.2240A>C (p.His747Pro) c.1895A>C (p.His632Pro) c.1496A>C (p.His499Pro) c.3218A>C (p.His1073Pro) n.2067A>C | |
9 | g.133454600A>G | CA375410885 | ADAMTS13 | c.3230A>G (p.His1077Arg) c.3137A>G (p.His1046Arg) c.*699A>G (n.*699A>G) n.2046A>G n.2065A>G c.2840A>G (p.His947Arg) c.2246A>G (p.His749Arg) c.2240A>G (p.His747Arg) c.1895A>G (p.His632Arg) c.1496A>G (p.His499Arg) c.3218A>G (p.His1073Arg) n.2067A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454600A>T | CA375410883 | ADAMTS13 | c.3230A>T (p.His1077Leu) c.3137A>T (p.His1046Leu) c.*699A>T (n.*699A>T) n.2046A>T n.2065A>T c.2840A>T (p.His947Leu) c.2246A>T (p.His749Leu) c.2240A>T (p.His747Leu) c.1895A>T (p.His632Leu) c.1496A>T (p.His499Leu) c.3218A>T (p.His1073Leu) n.2067A>T | dbSNP gnomAD v4 |
9 | g.133454601T>A | CA375410889 | ADAMTS13 | c.3231T>A (p.His1077Gln) c.3138T>A (p.His1046Gln) c.*700T>A (n.*700T>A) n.2047T>A n.2066T>A c.2841T>A (p.His947Gln) c.2247T>A (p.His749Gln) c.2241T>A (p.His747Gln) c.1896T>A (p.His632Gln) c.1497T>A (p.His499Gln) c.3219T>A (p.His1073Gln) n.2068T>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133454601T>G | CA375410887 | ADAMTS13 | c.3231T>G (p.His1077Gln) c.3138T>G (p.His1046Gln) c.*700T>G (n.*700T>G) n.2047T>G n.2066T>G c.2841T>G (p.His947Gln) c.2247T>G (p.His749Gln) c.2241T>G (p.His747Gln) c.1896T>G (p.His632Gln) c.1497T>G (p.His499Gln) c.3219T>G (p.His1073Gln) n.2068T>G | |
9 | g.133454601T= | CA1882681678 | ADAMTS13 | c.3231T= (p.His1077=) c.3138T= (p.His1046=) c.*700T= (n.*700T=) n.2047T= n.2066T= c.2841T= (p.His947=) c.2247T= (p.His749=) c.2241T= (p.His747=) c.1896T= (p.His632=) c.1497T= (p.His499=) c.3219T= (p.His1073=) n.2068T= | |
9 | g.133454602G>A | CA375410892 | ADAMTS13 | c.3232G>A (p.Val1078Ile) c.3139G>A (p.Val1047Ile) c.*701G>A (n.*701G>A) n.2048G>A n.2067G>A c.2842G>A (p.Val948Ile) c.2248G>A (p.Val750Ile) c.2242G>A (p.Val748Ile) c.1897G>A (p.Val633Ile) c.1498G>A (p.Val500Ile) c.3220G>A (p.Val1074Ile) n.2069G>A | |
9 | g.133454602G>C | CA375410890 | ADAMTS13 | c.3232G>C (p.Val1078Leu) c.3139G>C (p.Val1047Leu) c.*701G>C (n.*701G>C) n.2048G>C n.2067G>C c.2842G>C (p.Val948Leu) c.2248G>C (p.Val750Leu) c.2242G>C (p.Val748Leu) c.1897G>C (p.Val633Leu) c.1498G>C (p.Val500Leu) c.3220G>C (p.Val1074Leu) n.2069G>C | |
9 | g.133454602G>T | CA375410894 | ADAMTS13 | c.3232G>T (p.Val1078Phe) c.3139G>T (p.Val1047Phe) c.*701G>T (n.*701G>T) n.2048G>T n.2067G>T c.2842G>T (p.Val948Phe) c.2248G>T (p.Val750Phe) c.2242G>T (p.Val748Phe) c.1897G>T (p.Val633Phe) c.1498G>T (p.Val500Phe) c.3220G>T (p.Val1074Phe) n.2069G>T | gnomAD v4 |
9 | g.133454603T>A | CA375410898 | ADAMTS13 | c.3233T>A (p.Val1078Asp) c.3140T>A (p.Val1047Asp) c.*702T>A (n.*702T>A) n.2049T>A n.2068T>A c.2843T>A (p.Val948Asp) c.2249T>A (p.Val750Asp) c.2243T>A (p.Val748Asp) c.1898T>A (p.Val633Asp) c.1499T>A (p.Val500Asp) c.3221T>A (p.Val1074Asp) n.2070T>A | dbSNP |
9 | g.133454603T>C | CA375410902 | ADAMTS13 | c.3233T>C (p.Val1078Ala) c.3140T>C (p.Val1047Ala) c.*702T>C (n.*702T>C) n.2049T>C n.2068T>C c.2843T>C (p.Val948Ala) c.2249T>C (p.Val750Ala) c.2243T>C (p.Val748Ala) c.1898T>C (p.Val633Ala) c.1499T>C (p.Val500Ala) c.3221T>C (p.Val1074Ala) n.2070T>C | |
9 | g.133454603T>G | CA375410900 | ADAMTS13 | c.3233T>G (p.Val1078Gly) c.3140T>G (p.Val1047Gly) c.*702T>G (n.*702T>G) n.2049T>G n.2068T>G c.2843T>G (p.Val948Gly) c.2249T>G (p.Val750Gly) c.2243T>G (p.Val748Gly) c.1898T>G (p.Val633Gly) c.1499T>G (p.Val500Gly) c.3221T>G (p.Val1074Gly) n.2070T>G | |
9 | g.133454603T= | CA1882681679 | ADAMTS13 | c.3233T= (p.Val1078=) c.3140T= (p.Val1047=) c.*702T= (n.*702T=) n.2049T= n.2068T= c.2843T= (p.Val948=) c.2249T= (p.Val750=) c.2243T= (p.Val748=) c.1898T= (p.Val633=) c.1499T= (p.Val500=) c.3221T= (p.Val1074=) n.2070T= | |
9 | g.133454605G>A | CA375410904 | ADAMTS13 | c.3235G>A (p.Gly1079Ser) c.3142G>A (p.Gly1048Ser) c.*704G>A (n.*704G>A) n.2051G>A n.2070G>A c.2845G>A (p.Gly949Ser) c.2251G>A (p.Gly751Ser) c.2245G>A (p.Gly749Ser) c.1900G>A (p.Gly634Ser) c.1501G>A (p.Gly501Ser) c.3223G>A (p.Gly1075Ser) n.2072G>A | |
9 | g.133454605G>C | CA375410906 | ADAMTS13 | c.3235G>C (p.Gly1079Arg) c.3142G>C (p.Gly1048Arg) c.*704G>C (n.*704G>C) n.2051G>C n.2070G>C c.2845G>C (p.Gly949Arg) c.2251G>C (p.Gly751Arg) c.2245G>C (p.Gly749Arg) c.1900G>C (p.Gly634Arg) c.1501G>C (p.Gly501Arg) c.3223G>C (p.Gly1075Arg) n.2072G>C | |
9 | g.133454605G>T | CA375410907 | ADAMTS13 | c.3235G>T (p.Gly1079Cys) c.3142G>T (p.Gly1048Cys) c.*704G>T (n.*704G>T) n.2051G>T n.2070G>T c.2845G>T (p.Gly949Cys) c.2251G>T (p.Gly751Cys) c.2245G>T (p.Gly749Cys) c.1900G>T (p.Gly634Cys) c.1501G>T (p.Gly501Cys) c.3223G>T (p.Gly1075Cys) n.2072G>T | gnomAD v4 |
9 | g.133454606G>A | CA375410909 | ADAMTS13 | c.3236G>A (p.Gly1079Asp) c.3143G>A (p.Gly1048Asp) c.*705G>A (n.*705G>A) n.2052G>A n.2071G>A c.2846G>A (p.Gly949Asp) c.2252G>A (p.Gly751Asp) c.2246G>A (p.Gly749Asp) c.1901G>A (p.Gly634Asp) c.1502G>A (p.Gly501Asp) c.3224G>A (p.Gly1075Asp) n.2073G>A | |
9 | g.133454606G>C | CA375410911 | ADAMTS13 | c.3236G>C (p.Gly1079Ala) c.3143G>C (p.Gly1048Ala) c.*705G>C (n.*705G>C) n.2052G>C n.2071G>C c.2846G>C (p.Gly949Ala) c.2252G>C (p.Gly751Ala) c.2246G>C (p.Gly749Ala) c.1901G>C (p.Gly634Ala) c.1502G>C (p.Gly501Ala) c.3224G>C (p.Gly1075Ala) n.2073G>C | |
9 | g.133454606G>T | CA375410913 | ADAMTS13 | c.3236G>T (p.Gly1079Val) c.3143G>T (p.Gly1048Val) c.*705G>T (n.*705G>T) n.2052G>T n.2071G>T c.2846G>T (p.Gly949Val) c.2252G>T (p.Gly751Val) c.2246G>T (p.Gly749Val) c.1901G>T (p.Gly634Val) c.1502G>T (p.Gly501Val) c.3224G>T (p.Gly1075Val) n.2073G>T | gnomAD v4 |
9 | g.133454607C>A | CA2692361783 | ADAMTS13 | c.3237C>A (p.Gly1079=) c.3144C>A (p.Gly1048=) c.*706C>A (n.*706C>A) n.2053C>A n.2072C>A c.2847C>A (p.Gly949=) c.2253C>A (p.Gly751=) c.2247C>A (p.Gly749=) c.1902C>A (p.Gly634=) c.1503C>A (p.Gly501=) c.3225C>A (p.Gly1075=) n.2074C>A | gnomAD v4 |
9 | g.133454607C= | CA1882681680 | ADAMTS13 | c.3237C= (p.Gly1079=) c.3144C= (p.Gly1048=) c.*706C= (n.*706C=) n.2053C= n.2072C= c.2847C= (p.Gly949=) c.2253C= (p.Gly751=) c.2247C= (p.Gly749=) c.1902C= (p.Gly634=) c.1503C= (p.Gly501=) c.3225C= (p.Gly1075=) n.2074C= | |
9 | g.133454607C>T | CA200943336 | ADAMTS13 | c.3237C>T (p.Gly1079=) c.3144C>T (p.Gly1048=) c.*706C>T (n.*706C>T) n.2053C>T n.2072C>T c.2847C>T (p.Gly949=) c.2253C>T (p.Gly751=) c.2247C>T (p.Gly749=) c.1902C>T (p.Gly634=) c.1503C>T (p.Gly501=) c.3225C>T (p.Gly1075=) n.2074C>T | dbSNP gnomAD v4 |
9 | g.133454608A>C | CA375410918 | ADAMTS13 | c.3238A>C (p.Thr1080Pro) c.3145A>C (p.Thr1049Pro) c.*707A>C (n.*707A>C) n.2054A>C n.2073A>C c.2848A>C (p.Thr950Pro) c.2254A>C (p.Thr752Pro) c.2248A>C (p.Thr750Pro) c.1903A>C (p.Thr635Pro) c.1504A>C (p.Thr502Pro) c.3226A>C (p.Thr1076Pro) n.2075A>C | |
9 | g.133454608A>G | CA375410920 | ADAMTS13 | c.3238A>G (p.Thr1080Ala) c.3145A>G (p.Thr1049Ala) c.*707A>G (n.*707A>G) n.2054A>G n.2073A>G c.2848A>G (p.Thr950Ala) c.2254A>G (p.Thr752Ala) c.2248A>G (p.Thr750Ala) c.1903A>G (p.Thr635Ala) c.1504A>G (p.Thr502Ala) c.3226A>G (p.Thr1076Ala) n.2075A>G | |
9 | g.133454608A>T | CA375410922 | ADAMTS13 | c.3238A>T (p.Thr1080Ser) c.3145A>T (p.Thr1049Ser) c.*707A>T (n.*707A>T) n.2054A>T n.2073A>T c.2848A>T (p.Thr950Ser) c.2254A>T (p.Thr752Ser) c.2248A>T (p.Thr750Ser) c.1903A>T (p.Thr635Ser) c.1504A>T (p.Thr502Ser) c.3226A>T (p.Thr1076Ser) n.2075A>T | |
9 | g.133454609C>A | CA375410929 | ADAMTS13 | c.3239C>A (p.Thr1080Asn) c.3146C>A (p.Thr1049Asn) c.*708C>A (n.*708C>A) n.2055C>A n.2074C>A c.2849C>A (p.Thr950Asn) c.2255C>A (p.Thr752Asn) c.2249C>A (p.Thr750Asn) c.1904C>A (p.Thr635Asn) c.1505C>A (p.Thr502Asn) c.3227C>A (p.Thr1076Asn) n.2076C>A | |
9 | g.133454609C= | CA1882681681 | ADAMTS13 | c.3239C= (p.Thr1080=) c.3146C= (p.Thr1049=) c.*708C= (n.*708C=) n.2055C= n.2074C= c.2849C= (p.Thr950=) c.2255C= (p.Thr752=) c.2249C= (p.Thr750=) c.1904C= (p.Thr635=) c.1505C= (p.Thr502=) c.3227C= (p.Thr1076=) n.2076C= | |
9 | g.133454609C>G | CA375410927 | ADAMTS13 | c.3239C>G (p.Thr1080Ser) c.3146C>G (p.Thr1049Ser) c.*708C>G (n.*708C>G) n.2055C>G n.2074C>G c.2849C>G (p.Thr950Ser) c.2255C>G (p.Thr752Ser) c.2249C>G (p.Thr750Ser) c.1904C>G (p.Thr635Ser) c.1505C>G (p.Thr502Ser) c.3227C>G (p.Thr1076Ser) n.2076C>G | |
9 | g.133454609C>T | CA375410925 | ADAMTS13 | c.3239C>T (p.Thr1080Ile) c.3146C>T (p.Thr1049Ile) c.*708C>T (n.*708C>T) n.2055C>T n.2074C>T c.2849C>T (p.Thr950Ile) c.2255C>T (p.Thr752Ile) c.2249C>T (p.Thr750Ile) c.1904C>T (p.Thr635Ile) c.1505C>T (p.Thr502Ile) c.3227C>T (p.Thr1076Ile) n.2076C>T | dbSNP gnomAD v4 |
9 | g.133454610C>G | CA2692361784 | ADAMTS13 | c.3240C>G (p.Thr1080=) c.3147C>G (p.Thr1049=) c.*709C>G (n.*709C>G) n.2056C>G n.2075C>G c.2850C>G (p.Thr950=) c.2256C>G (p.Thr752=) c.2250C>G (p.Thr750=) c.1905C>G (p.Thr635=) c.1506C>G (p.Thr502=) c.3228C>G (p.Thr1076=) n.2077C>G | gnomAD v4 |
9 | g.133454610_133454611delinsCT | CA1882681682 | ADAMTS13 | c.3240_3241delinsCT (p.Thr1080=) c.3147_3148delinsCT (p.Thr1049=) c.*709_*710delinsCT (n.*709_*710delinsCT) n.2056_2057delinsCT n.2075_2076delinsCT c.2850_2851delinsCT (p.Thr950=) c.2256_2257delinsCT (p.Thr752=) c.2250_2251delinsCT (p.Thr750=) c.1905_1906delinsCT (p.Thr635=) c.1506_1507delinsCT (p.Thr502=) c.3228_3229delinsCT (p.Thr1076=) n.2077_2078delinsCT | |
9 | g.133454611del | CA860742360 | ADAMTS13 | c.3241del (p.Trp1081GlyfsTer?) c.3148del (p.Trp1050GlyfsTer?) c.*710del (n.*710del) n.2057del n.2076del c.2851del (p.Trp951GlyfsTer?) c.2257del (p.Trp753GlyfsTer?) c.2251del (p.Trp751GlyfsTer?) c.1906del (p.Trp636GlyfsTer?) c.1507del (p.Trp503GlyfsTer?) c.3229del (p.Trp1077GlyfsTer?) n.2078del | dbSNP |
9 | g.133454611T>A | CA375410931 | ADAMTS13 | c.3241T>A (p.Trp1081Arg) c.3148T>A (p.Trp1050Arg) c.*710T>A (n.*710T>A) n.2057T>A n.2076T>A c.2851T>A (p.Trp951Arg) c.2257T>A (p.Trp753Arg) c.2251T>A (p.Trp751Arg) c.1906T>A (p.Trp636Arg) c.1507T>A (p.Trp503Arg) c.3229T>A (p.Trp1077Arg) n.2078T>A | |
9 | g.133454611T>C | CA375410933 | ADAMTS13 | c.3241T>C (p.Trp1081Arg) c.3148T>C (p.Trp1050Arg) c.*710T>C (n.*710T>C) n.2057T>C n.2076T>C c.2851T>C (p.Trp951Arg) c.2257T>C (p.Trp753Arg) c.2251T>C (p.Trp751Arg) c.1906T>C (p.Trp636Arg) c.1507T>C (p.Trp503Arg) c.3229T>C (p.Trp1077Arg) n.2078T>C | gnomAD v4 |
9 | g.133454611T>G | CA375410936 | ADAMTS13 | c.3241T>G (p.Trp1081Gly) c.3148T>G (p.Trp1050Gly) c.*710T>G (n.*710T>G) n.2057T>G n.2076T>G c.2851T>G (p.Trp951Gly) c.2257T>G (p.Trp753Gly) c.2251T>G (p.Trp751Gly) c.1906T>G (p.Trp636Gly) c.1507T>G (p.Trp503Gly) c.3229T>G (p.Trp1077Gly) n.2078T>G | |
9 | g.133454612G>A | CA375410941 | ADAMTS13 | c.3242G>A (p.Trp1081Ter) c.3149G>A (p.Trp1050Ter) c.*711G>A (n.*711G>A) n.2058G>A n.2077G>A c.2852G>A (p.Trp951Ter) c.2258G>A (p.Trp753Ter) c.2252G>A (p.Trp751Ter) c.1907G>A (p.Trp636Ter) c.1508G>A (p.Trp503Ter) c.3230G>A (p.Trp1077Ter) n.2079G>A | ClinVar |
9 | g.133454612G>C | CA375410942 | ADAMTS13 | c.3242G>C (p.Trp1081Ser) c.3149G>C (p.Trp1050Ser) c.*711G>C (n.*711G>C) n.2058G>C n.2077G>C c.2852G>C (p.Trp951Ser) c.2258G>C (p.Trp753Ser) c.2252G>C (p.Trp751Ser) c.1907G>C (p.Trp636Ser) c.1508G>C (p.Trp503Ser) c.3230G>C (p.Trp1077Ser) n.2079G>C | |
9 | g.133454612G>T | CA375410945 | ADAMTS13 | c.3242G>T (p.Trp1081Leu) c.3149G>T (p.Trp1050Leu) c.*711G>T (n.*711G>T) n.2058G>T n.2077G>T c.2852G>T (p.Trp951Leu) c.2258G>T (p.Trp753Leu) c.2252G>T (p.Trp751Leu) c.1907G>T (p.Trp636Leu) c.1508G>T (p.Trp503Leu) c.3230G>T (p.Trp1077Leu) n.2079G>T | gnomAD v4 |
9 | g.133454613G>A | CA375410952 | ADAMTS13 | c.3243G>A (p.Trp1081Ter) c.3150G>A (p.Trp1050Ter) c.*712G>A (n.*712G>A) n.2059G>A n.2078G>A c.2853G>A (p.Trp951Ter) c.2259G>A (p.Trp753Ter) c.2253G>A (p.Trp751Ter) c.1908G>A (p.Trp636Ter) c.1509G>A (p.Trp503Ter) c.3231G>A (p.Trp1077Ter) n.2080G>A | |
9 | g.133454613G>C | CA375410954 | ADAMTS13 | c.3243G>C (p.Trp1081Cys) c.3150G>C (p.Trp1050Cys) c.*712G>C (n.*712G>C) n.2059G>C n.2078G>C c.2853G>C (p.Trp951Cys) c.2259G>C (p.Trp753Cys) c.2253G>C (p.Trp751Cys) c.1908G>C (p.Trp636Cys) c.1509G>C (p.Trp503Cys) c.3231G>C (p.Trp1077Cys) n.2080G>C | |
9 | g.133454613G>T | CA375410958 | ADAMTS13 | c.3243G>T (p.Trp1081Cys) c.3150G>T (p.Trp1050Cys) c.*712G>T (n.*712G>T) n.2059G>T n.2078G>T c.2853G>T (p.Trp951Cys) c.2259G>T (p.Trp753Cys) c.2253G>T (p.Trp751Cys) c.1908G>T (p.Trp636Cys) c.1509G>T (p.Trp503Cys) c.3231G>T (p.Trp1077Cys) n.2080G>T | gnomAD v4 |
9 | g.133454614A>C | CA375410962 | ADAMTS13 | c.3244A>C (p.Met1082Leu) c.3151A>C (p.Met1051Leu) c.*713A>C (n.*713A>C) n.2060A>C n.2079A>C c.2854A>C (p.Met952Leu) c.2260A>C (p.Met754Leu) c.2254A>C (p.Met752Leu) c.1909A>C (p.Met637Leu) c.1510A>C (p.Met504Leu) c.3232A>C (p.Met1078Leu) n.2081A>C | |
9 | g.133454614A>G | CA375410965 | ADAMTS13 | c.3244A>G (p.Met1082Val) c.3151A>G (p.Met1051Val) c.*713A>G (n.*713A>G) n.2060A>G n.2079A>G c.2854A>G (p.Met952Val) c.2260A>G (p.Met754Val) c.2254A>G (p.Met752Val) c.1909A>G (p.Met637Val) c.1510A>G (p.Met504Val) c.3232A>G (p.Met1078Val) n.2081A>G | |
9 | g.133454614A>T | CA375410968 | ADAMTS13 | c.3244A>T (p.Met1082Leu) c.3151A>T (p.Met1051Leu) c.*713A>T (n.*713A>T) n.2060A>T n.2079A>T c.2854A>T (p.Met952Leu) c.2260A>T (p.Met754Leu) c.2254A>T (p.Met752Leu) c.1909A>T (p.Met637Leu) c.1510A>T (p.Met504Leu) c.3232A>T (p.Met1078Leu) n.2081A>T | |
9 | g.133454615T>A | CA375410977 | ADAMTS13 | c.3245T>A (p.Met1082Lys) c.3152T>A (p.Met1051Lys) c.*714T>A (n.*714T>A) n.2061T>A n.2080T>A c.2855T>A (p.Met952Lys) c.2261T>A (p.Met754Lys) c.2255T>A (p.Met752Lys) c.1910T>A (p.Met637Lys) c.1511T>A (p.Met504Lys) c.3233T>A (p.Met1078Lys) n.2082T>A | |
9 | g.133454615T>C | CA375410979 | ADAMTS13 | c.3245T>C (p.Met1082Thr) c.3152T>C (p.Met1051Thr) c.*714T>C (n.*714T>C) n.2061T>C n.2080T>C c.2855T>C (p.Met952Thr) c.2261T>C (p.Met754Thr) c.2255T>C (p.Met752Thr) c.1910T>C (p.Met637Thr) c.1511T>C (p.Met504Thr) c.3233T>C (p.Met1078Thr) n.2082T>C | |
9 | g.133454615T>G | CA375410972 | ADAMTS13 | c.3245T>G (p.Met1082Arg) c.3152T>G (p.Met1051Arg) c.*714T>G (n.*714T>G) n.2061T>G n.2080T>G c.2855T>G (p.Met952Arg) c.2261T>G (p.Met754Arg) c.2255T>G (p.Met752Arg) c.1910T>G (p.Met637Arg) c.1511T>G (p.Met504Arg) c.3233T>G (p.Met1078Arg) n.2082T>G | |
9 | g.133454616G>A | CA375410983 | ADAMTS13 | c.3246G>A (p.Met1082Ile) c.3153G>A (p.Met1051Ile) c.*715G>A (n.*715G>A) n.2062G>A n.2081G>A c.2856G>A (p.Met952Ile) c.2262G>A (p.Met754Ile) c.2256G>A (p.Met752Ile) c.1911G>A (p.Met637Ile) c.1512G>A (p.Met504Ile) c.3234G>A (p.Met1078Ile) n.2083G>A | |
9 | g.133454616G>C | CA375410986 | ADAMTS13 | c.3246G>C (p.Met1082Ile) c.3153G>C (p.Met1051Ile) c.*715G>C (n.*715G>C) n.2062G>C n.2081G>C c.2856G>C (p.Met952Ile) c.2262G>C (p.Met754Ile) c.2256G>C (p.Met752Ile) c.1911G>C (p.Met637Ile) c.1512G>C (p.Met504Ile) c.3234G>C (p.Met1078Ile) n.2083G>C | |
9 | g.133454616G>T | CA375410989 | ADAMTS13 | c.3246G>T (p.Met1082Ile) c.3153G>T (p.Met1051Ile) c.*715G>T (n.*715G>T) n.2062G>T n.2081G>T c.2856G>T (p.Met952Ile) c.2262G>T (p.Met754Ile) c.2256G>T (p.Met752Ile) c.1911G>T (p.Met637Ile) c.1512G>T (p.Met504Ile) c.3234G>T (p.Met1078Ile) n.2083G>T | gnomAD v4 |
9 | g.133454617G>A | CA375410994 | ADAMTS13 | c.3247G>A (p.Glu1083Lys) c.3154G>A (p.Glu1052Lys) c.*716G>A (n.*716G>A) n.2063G>A n.2082G>A c.2857G>A (p.Glu953Lys) c.2263G>A (p.Glu755Lys) c.2257G>A (p.Glu753Lys) c.1912G>A (p.Glu638Lys) c.1513G>A (p.Glu505Lys) c.3235G>A (p.Glu1079Lys) n.2084G>A | gnomAD v4 |
9 | g.133454617G>C | CA375410997 | ADAMTS13 | c.3247G>C (p.Glu1083Gln) c.3154G>C (p.Glu1052Gln) c.*716G>C (n.*716G>C) n.2063G>C n.2082G>C c.2857G>C (p.Glu953Gln) c.2263G>C (p.Glu755Gln) c.2257G>C (p.Glu753Gln) c.1912G>C (p.Glu638Gln) c.1513G>C (p.Glu505Gln) c.3235G>C (p.Glu1079Gln) n.2084G>C | |
9 | g.133454617G>T | CA375411002 | ADAMTS13 | c.3247G>T (p.Glu1083Ter) c.3154G>T (p.Glu1052Ter) c.*716G>T (n.*716G>T) n.2063G>T n.2082G>T c.2857G>T (p.Glu953Ter) c.2263G>T (p.Glu755Ter) c.2257G>T (p.Glu753Ter) c.1912G>T (p.Glu638Ter) c.1513G>T (p.Glu505Ter) c.3235G>T (p.Glu1079Ter) n.2084G>T | gnomAD v4 |